1 | WAS, WASP
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| Nuclear role of WASp in gene transcription is uncoupled from its ARP2/3-dependent cytoplasmic role in actin polymerization.
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| Sadhukhan S, Sarkar K, Taylor M, Candotti F, Vyas YM.
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| J Immunol 193(1):150-60. doi: 10.4049/jimmunol.1302923. Epub 2014 May 28.
2014
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2 | WAS, WASP
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| Wiskott-Aldrich Syndrome causing mutation, Pro373Ser restricts conformational changes essential for WASP activity in T-cells.
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| Jain N, George B, Thanabalu T.
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| Biochim Biophys Acta 1842(4):623-34. doi: 10.1016/j.bbadis.2014.01.006. Epub 2014 Jan 15.
2014
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3 | WAS, WASP
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| A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes.
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| Burns SO, Killock DJ, Moulding DA, Metelo J, Nunes J, Taylor RR, Forge A, Thrasher AJ, Ivetic A.
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| Blood 115(26):5355-65. doi: 10.1182/blood-2009-08-236174. Epub 2010 Mar 30.
2010
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4 | WAS, WASP, XLN, XLT
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| The Wiskott-Aldrich syndrome.
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| Ochs HD, Thrasher AJ.
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| J Allergy Clin Immunol 117(4):725-38; quiz 739. Review. 2006
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5 | WASP, CDC42
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| The nucleotide switch in Cdc42 modulates coupling between the GTPase-binding and allosteric equilibria of Wiskott-Aldrich syndrome protein.
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| Leung DW, Rosen MK.
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| Proc Natl Acad Sci U S A 102(16):5685-90. Epub 2005 Apr 8. 2005
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6 | WAS, WASP, XLT, XLN
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| Genotype-proteotype linkage in the Wiskott-Aldrich syndrome.
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| Lutskiy MI, Rosen FS, Remold-O'Donnell E.
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| J Immunol 175(2):1329-36. 2005
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7 | WAS, WASP, WIPF1
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| Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling.
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| Kim MK, Kim ES, Kim DS, Choi IH, Moon T, Yoon CN, Shin JS.
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| Biochim Biophys Acta 1690(2):134-40. 2004
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8 | WAS, WASP, XLT, XLN
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| Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
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| Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD.
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| Blood 104(13):4010-9. Epub 2004 Jul 29. 2004
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9 | WAS, WASP
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| Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.
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| Andreu N, Carreras C, Prieto F, Estivill X, Volpini V, Fillat C.
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| J Hum Genet 48(11):590-3. Epub 2003 Oct 18. 2003
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10 | WASP, XLN
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| Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
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| Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P.
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| Nat Genet 27(3):313-7. 2001
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11 | WASP
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| Actin cytoskeletal function is spared, but apoptosis is increased, in WAS patient hematopoietic cells.
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| Rengan R, Ochs HD, Sweet LI, Keil ML, Gunning WT, Lachant NA, Boxer LA, Omann GM.
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| Blood 95(4):1283-92. 2000
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12 | TRIP10, WASP
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| Cdc42-interacting protein 4 mediates binding of the Wiskott-Aldrich syndrome protein to microtubules.
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| Tian L, Nelson DL, Stewart DM.
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| J Biol Chem 275(11):7854-61. 2000
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13 | CDC42, WASP
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| Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein.
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| Abdul-Manan N, et al.
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| Nature 399(6734):379-83. 1999
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14 | WASP
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| The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene.
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| Hagemann TL, et al.
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| Biochem Biophys Res Commun 256(1):104-9. 1999
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15 | WASP
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| Wiskott-Aldrich syndrome protein, WASP.
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| O'Sullivan E, et al.
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| Int J Biochem Cell Biol 31(3-4):383-7. Review. 1999
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16 | WASP, WASP
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| Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
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| Lemahieu V, et al.
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| Hum Mutat 14(1):54-66. 1999
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17 | WASP, CDC42
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| Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages.
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| Linder S, et al.
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| Proc Natl Acad Sci U S A 96(17):9648-53 1999
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18 | WASP
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| X-linked Wiskott-Aldrich syndrome in a girl.
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| Parolini O, Ressmann G, Haas OA, Pawlowsky J, Gadner H, Knapp W, Holter W.
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| N Engl J Med 338(5):291-5. No abstract available. 1998
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19 | WASP
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| A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells.
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| Petrella A, et al.
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| Blood 91 : 4554-4560. 1998
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20 | WASP
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| Wiskott-Aldrich syndrome : a gene, a multifunctional protein and the beginnings of an explanation.
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| Kirchhausen T.
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| Mol Med Today 4 : 300-304. 1998
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21 | WASP
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| Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome.
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| Ariga T, Yamada M, Ito S, Iwamura M, Iseki M, Sakiyama Y.
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| Hum Mutat 10(4):310-6. 1997
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22 | WASP
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| Wiskott-Aldrich syndrome/X-linked thrombocytopenia : WASP gene mutations, protein expression, and phenotype.
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| Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD.
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| Blood 90(7):2680-9. 1997
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23 | CDC42, WASP
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| Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.
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| Symons M, et al.
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| Cell 84 : 723-734. 1996
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24 | WASP
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| Wiskott-Aldrich syndrome : no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
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| Schindelhauer D, et al.
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| Hum Genet 98 : 68-76. 1996
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25 | WASP
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| Studies of the expression of the Wiskott-Aldrich syndrome protein.
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| Stewart DM, et al.
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| J Clin Invest 97 : 2627-2634. 1996
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26 | WAS, WASP, XLT
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| Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.
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| de Saint Basile G, et al.
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| J Pediatr 129 : 56-62. 1996
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27 | WASP
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| Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.
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| Greer WL, et al.
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| Hum Genet 98 : 685-690. 1996
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28 | WASP
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| Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src Homology 3 domains.
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| Finan PM, et al.
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| J Biol Chem 271- : 26291-26295. 1996
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29 | WASP
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| Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways.
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| Cory GOC, et al.
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| J Immunol 157 : 3791-3795. 1996
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30 | WASP, WASP
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| Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome.
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| Ariga T, et al.
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| Biochim Biophys Acta 1317 : 158-160. 1996
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31 | WAS, WASP, XLT
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| The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.
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| Zhu Q, et al.
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| Blood 86 : 3797-3804. 1995
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32 | WAS, WASP,XLT
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| X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
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| Villa A, et al.
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| Nat Genet 9 : 414-417. 1995
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33 | WASP, WASP
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| Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
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| Kwan SP, et al.
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| Proc Natl Acad Sci U S A 92 : 4706-4710. 1995
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34 | WASP
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| Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
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| Kolluri R, et al.
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| Hum Mol Genet 4 : 1119-1126. 1995
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35 | WASP
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| WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
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| Derry JMJ, et al.
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| Hum Mol Genet 4 : 1127-1135. 1995
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36 | WASP
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| Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.
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| Derry JMJ, et al.
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| Cell 78 : 635-644. 1994
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37 | WASP
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| Towards cloning the WAS-gene locus : YAC-contigs and PFGE analysis. (abstr)
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| Meindl A, et al.
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| Am J Hum Genet 55 : A265. 1994
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38 | WASP
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| Isolation of novel cDNAs in the WAS candidate locus Xp11.22-Xp11.3. (abstr)
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| Kolluri R, et al.
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| Cytogenet Cell Genet 67 : 341. 1994
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39 | WASP
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| Towards the cloning of the WAS-gene locus : linkage and physical mapping. (abstr)
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| Meindl A, et al.
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| Cytogenet Cell Genet 67 : 343. 1994
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40 | WAS, WASP, XLT
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| Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3-p11.22 region.
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| Cremin SM, et al.
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| Hum Genet 92 : 250-253. 1993
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41 | WASP
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| The Wiskott-Aldrich syndrome : refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.
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| Greer WL, et al.
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| Hum Genet 88 : 453-456. 1992
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42 | WASP
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| Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27beta.
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| Saint Basile G de, et al.
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| Hum Genet 89 : 223-228. 1992
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43 | WASP
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| Carrier detection in Wiskott-Aldrich syndrome : combined use of M27beta for X-inactivation studies and as a linked probe.
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| Goodship J, et al.
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| Blood 77 : 2677-2681. 1991
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44 | WASP
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| Further localization of the gene for Wiskott-Aldrich syndrome.
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| Kwan SP, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2071-2072. 1991
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45 | WASP
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| Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3.
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| Kwan SP, et al.
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| Genomics 10 : 29-33. 1991
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46 | WASP
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| Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region in the human X chromosome.
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| Greer WL, et al.
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| Genomics 6 : 568-571. 1990
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47 | WASP
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| Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.
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| Arveiler B, et al.
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| Am J Hum Genet 46 : 906-911. 1990
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48 | WASP
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| Linkage studies of the Wiskott-Aldrich syndrome : polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.
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| Greer WL, et al.
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| Hum Genet 83 : 227-230. 1989
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49 | WASP, DXS255
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| Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome.
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| Saint Basile G de, et al.
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| Lancet II : 1319-1321. 1989
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50 | WASP
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| First-trimester diagnosis of Wiskott-Aldrich syndrome by DNA markers.
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| Schwartz M, et al.
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| Lancet II : 1405. 1989
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51 | WASP, XLT
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| Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome.
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| Donner M, et al.
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| Blood 72 : 1849-1853. 1988
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52 | WASP
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| Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.
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| Kwan SP, et al.
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| Genomics 3 : 39-43. 1988
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53 | WASP
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| Linkage analysis of the Wiskott-Aldrich syndrome (IMD2) using X-linked DNA polymorphisms.
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| Arveiler B, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 573. 1987
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54 | WASP
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| Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from human X chromosome.
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| Peacocke M, et al.
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| Proc Natl Acad Sci U S A 84 : 3430-3433. 1987
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