| 1 | ALPL, HOPS1
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| A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
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| Mentrup B, Girschick H, Jakob F, Hofmann C.
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| Bone 94:75-83. doi: 10.1016/j.bone.2016.10.022.
2017
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| 2 | ACPT, ALPL
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| Testicular acid phosphatase induces odontoblast differentiation and mineralization.
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| Choi H, Kim TH, Yun CY, Kim JW, Cho ES.
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| Cell Tissue Res 364(1):95-103. doi: 10.1007/s00441-015-2310-9.
2016
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| 3 | ALPL
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| Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.
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| Komaru K, Satou Y, Al-Shawafi HA, Numa-Kinjoh N, Sohda M, Oda K.
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| FEBS J 283(6):1168-79. doi: 10.1111/febs.13663.
2016
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| 4 | ALPL, HOPS1
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| Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia.
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| Durussel J, Liu J, Campbell C, Nam HK, Hatch NE.
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| Dev Dyn 245(2):175-82. doi: 10.1002/dvdy.24370.
2016
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| 5 | ALPL
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| Effects of GPI-anchored TNAP on the dynamic structure of model membranes.
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| Garcia AF, Simăo AM, Bolean M, Hoylaerts MF, Millán JL, Ciancaglini P, Costa-Filho AJ.
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| Phys Chem Chem Phys 17(39):26295-301. doi: 10.1039/c5cp02377g.
2015
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| 6 | ALPL
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| The Role of Tissue Non-specific Alkaline Phosphatase (TNAP) in Neurodegenerative Diseases: Alzheimer's Disease in the Focus.
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| Kellett KA, Hooper NM.
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| Subcell Biochem 76:363-74. doi: 10.1007/978-94-017-7197-9_17.
2015
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| 7 | ALPL, FRP2
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| Tissue-nonspecific alkaline phosphatase as a target of sFRP2 in cardiac fibroblasts.
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| Martin S, Lin H, Ejimadu C, Lee T.
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| Am J Physiol Cell Physiol 309(3):C139-47. doi: 10.1152/ajpcell.00009.2015.
2015
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| 8 | ALPL
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| Functional significance of calcium binding to tissue-nonspecific alkaline phosphatase.
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| Hoylaerts MF, Van Kerckhoven S, Kiffer-Moreira T, Sheen C, Narisawa S, Millán JL.
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| PLoS One 10(3):e0119874. doi: 10.1371/journal.pone.0119874.
2015
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| 9 | ALPL, ENPP1
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| Counter-regulatory phosphatases TNAP and NPP1 temporally regulate tooth root cementogenesis.
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| Zweifler LE, Patel MK, Nociti FH Jr, Wimer HF, Millán JL, Somerman MJ, Foster BL.
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| Int J Oral Sci 7(1):27-41. doi: 10.1038/ijos.2014.62.
2015
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| 10 | ALPL
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| Stratified organization and disorganization of inner plexiform layer revealed by TNAP activity in healthy and diabetic rat retina.
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| Kántor O, Varga A, Tóth R, Énzsöly A, Pálfi E, Kovács-Öller T, Nitschke R, Szél Á, Székely A, Völgyi B, Négyessy L, Somogyvári Z, Lukáts Á.
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| Cell Tissue Res 359(2):409-21. doi: 10.1007/s00441-014-2047-x.
2015
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| 11 | ALPL
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| Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia.
|
| Liu J, Nam HK, Campbell C, Gasque KC, Millán JL, Hatch NE.
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| Bone 67:81-94. doi: 10.1016/j.bone.2014.06.040.
2014
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| 12 | ALPL, HOPS1
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| Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.
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| Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B.
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| Eur J Hum Genet 22(10):1160-4. doi: 10.1038/ejhg.2014.10.
2014
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| 13 | ALPL, SLC30A1, SLC30A4
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| Cooperative functions of ZnT1, metallothionein and ZnT4 in the cytoplasm are required for full activation of TNAP in the early secretory pathway.
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| Fujimoto S, Itsumura N, Tsuji T, Anan Y, Tsuji N, Ogra Y, Kimura T, Miyamae Y, Masuda S, Nagao M, Kambe T.
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| PLoS One 8(10):e77445. doi: 10.1371/journal.pone.0077445.
2013
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| 14 | ALPL, HOPS1
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| Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
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| Yang H, Wang L, Geng J, Yu T, Yao RE, Shen Y, Yin L, Ying D, Huang R, Zhou Y, Chen H, Liu L, Mo X, Shen Y, Fu Q, Yu Y.
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| Cell Physiol Biochem 32(3):635-44. doi: 10.1159/000354467.
2013
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| 15 | ALPL, PHOSPHO1
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| Compounded PHOSPHO1/ALPL deficiencies reduce dentin mineralization.
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| McKee MD, Yadav MC, Foster BL, Somerman MJ, Farquharson C, Millán JL.
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| J Dent Res 92(8):721-7. doi: 10.1177/0022034513490958.
2013
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| 16 | ALPL, HOPS1
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| A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
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| Makita S, Al-Shawafi HA, Sultana S, Sohda M, Nomura S, Oda K.
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| FEBS J 279(23):4327-37. doi: 10.1111/febs.12022.
2012
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| 17 | ALPL, HOPS1
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| Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth.
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| Rodrigues TL, Foster BL, Silverio KG, Martins L, Casati MZ, Sallum EA, Somerman MJ, Nociti FH Jr.
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| J Endod 38(7):907-12. doi: 10.1016/j.joen.2012.02.008.
2012
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| 18 | ALPL
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| Tissue nonspecific alkaline phosphatase is activated via a two-step mechanism by zinc transport complexes in the early secretory pathway.
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| Fukunaka A, Kurokawa Y, Teranishi F, Sekler I, Oda K, Ackland ML, Faundez V, Hiromura M, Masuda S, Nagao M, Enomoto S, Kambe T.
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| J Biol Chem 286(18):16363-73. doi: 10.1074/jbc.M111.227173.
2011
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| 19 | ALPL
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| Tissue-nonspecific alkaline phosphatase promotes axonal growth of hippocampal neurons.
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| Díez-Zaera M, Díaz-Hernández JI, Hernández-Álvarez E, Zimmermann H, Díaz-Hernández M, Miras-Portugal MT.
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| Mol Biol Cell 22(7):1014-24. doi: 10.1091/mbc.E10-09-0740.
2011
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| 20 | ALPL, HOPS1
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| A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
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| Brun-Heath I, Chabrol E, Fox M, Drexler K, Petit C, Taillandier A, De Mazancourt P, Serre JL, Mornet E.
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| Clin Genet 73(3):245-50. Epub 2007 Oct 7. 2008
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| 21 | ALPL, HOPS1
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| A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.
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| Lia-Baldini AS, Brun-Heath I, Carrion C, Simon-Bouy B, Serre JL, Nunes ME, Mornet E.
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| Hum Genet 123(4):429-32. Epub 2008 Mar 14. 2008
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| 22 | ALPL, HOPS1
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| Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene.
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| Taillandier A, Sallinen SL, Brun-Heath I, De Mazancourt P, Serre JL, Mornet E.
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| J Clin Endocrinol Metab 90(4):2436-9. Epub 2005 Jan 25. 2005
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| 23 | ALPL, HOPS1
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| Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
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| Watanabe H, Takinami H, Goseki-Sone M, Orimo H, Hamatani R, Ishikawa I.
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| Biochem Biophys Res Commun 327(1):124-9. 2005
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| 24 | ALPI, ALPL, ALPP, ALPPL2
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| Structural evidence of functional divergence in human alkaline phosphatases.
|
| Le Du MH, Millan JL.
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| J Biol Chem 277(51):49808-14. 2002
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| 25 | ALPL, HOPS1
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| G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.
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| Orimo H, Shin YS, Shimada T.
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| J Inherit Metab Dis 25(7):601-2. No abstract available. 2002
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| 26 | ALPL
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| A molecular approach to dominance in hypophosphatasia.
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| Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E.
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| Hum Genet 109(1):99-108. 2001
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| 27 | ALPL, HOS1
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| Perinatal hypophosphatasia : radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
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| Sergi C, Mornet E, Troeger J, Voigtlaender T.
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| Am J Med Genet 103 : 235-240. 2001
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| 28 | ALPL
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| Hypophosphatasia: molecular diagnosis of Rathbun's original case.
|
| Mumm S, Jones J, Finnegan P, Whyte MP.
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| J Bone Miner Res 16(9):1724-7. 2001
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| 29 | ALPL, HOPS1
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| Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
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| Mornet E.
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| Hum Mutat 15(4):309-15. 2000
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| 30 | ALPL, HOPS1
|
| Correlations of genotype and phenotype in hypophosphatasia.
|
| Zurutuza L, et al.
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| Hum Mol Genet 8(6):1039-46. 1999
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| 31 | ALPL, HOPS1
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| Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-Thr mutation associated with lethal hypophosphatasia.
|
| Shibata H, et al.
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| J Biochem 123 : 968-977. 1998
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| 32 | ALPL, HOPS1
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| Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
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| Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussiere P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B.
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| Eur J Hum Genet 6(4):308-14. 1998
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| 33 | ALPL, HOPS1
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| Expression of the mutant (1735T-DEL) tissue- nonspecific alkaline phosphatase gene from hypophosphatasia patients.
|
| Goseki-Sone M, et al.
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| J Bone Miner Res 13 : 1827-1834. 1998
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| 34 | ALPL, ALPP, ALPPL2
|
| Characterization of alkaline phosphatase genes expressed in seminoma by cDNA cloning.
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| Shigenari A, Ando A, Baba T, Yamamoto T, Katsuoka Y, Inoko H.
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| Cancer Res 58(22):5079-82. 1998
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| 35 | ALPL, HOPS1
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| Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification.
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| Orimo H, Goseki-Sone M, Sato S, Shimada T.
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| Genomics 42(2):364-6. 1997
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| 36 | ALPL, HOPS1
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| Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
|
| Ozono K, et al.
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| J Clin Endocrinol Metab 81 : 4458-4461. 1996
|
| 37 | HOPS1, ALPL
|
| Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.
|
| Orimo H, et al.
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| Hum Mol Genet 3 : 1683-1684. 1994
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| 38 | ALPL, HOPS1
|
| A homoallelic Gly317-Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites.
|
| Greenberg CR, et al.
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| Genomics 17 : 215-217. 1993
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| 39 | ALPL, HOPS1
|
| Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
|
| Henthorn PS, et al.
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| Proc Natl Acad Sci U S A 89 : 9924-9928. 1992
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| 40 | ALPL
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| A ScrFI polymorphism in the human ALPL gene.
|
| Okuyama T, et al.
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| Nucleic Acids Res 19 : 5090. 1991
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| 41 | ALPL
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| PCR detection of a BclI RFLP in the human ALPL gene.
|
| Okuyama T, et al.
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| Nucleic Acids Res 19 : 1166. 1991
|
| 42 | ALPL, FUCA1, D1S15, D1S16, D1S17, D1S18, D1S19, D1S20, D1S21, D1S22, D1S57, D1S9, D1S10, D1S11, D1S12, D1S13, D1S14, SLC2A1
|
| A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome 1.
|
| Dracopoli NC, Stanger BZ, Ito CY, Call KM, Lincoln SE, Lander ES, Housman DE.
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| Am J Hum Genet 43 : 462-470. 1988
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| 43 | ALPL
|
| Probe 8B/E5' detects a second RFLP at the human liver/bone/kidney alkaline phosphatase (ALPL) locus.
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| Ray K, et al.
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| Nucleic Acids Res 16 : 2361. 1988
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| 44 | ALPL
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| Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.
|
| Smith M, et al.
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| Genomics 2 : 139-143. 1988
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| 45 | ALPL
|
| Assignment of the gene encoding the liver/bone/kidney form of alkaline phosphatase ALPL to the region 1p34-p36.1.
|
| Weiss M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 714. 1987
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| 46 | ALPL
|
| A high-frequency RFLP at the human liver/bone/kidney-type alkaline phosphatase locus.
|
| Weiss MJ, Spielman RS, Harris H.
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| Nucleic Acids Res 15(2) : 860. 1987
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| 47 | ALPL, RAB3IL1, RH, SLC2A1
|
| Multipoint linkage relationships of 6 loci on 1p (ALPL,GLUT,PGD,PGM1, PND,RH).
|
| Ardinger RH, et al.
|
| Am J Hum Genet 41 : A154. 1987
|
| 48 | ALPL, HOPS1
|
| Infantile hypophosphatasia. Linkage with the RH locus.
|
| Chodirker BN, et al.
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| Genomics 1 : 280-282. 1987
|
| 49 | ALPL
|
| Mapping of the gene coding for the human liver/bone/kidney isozyme of alkaline phosphatase to chromosome 1.
|
| Swallow DM, et al.
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| Ann Hum Genet 50 : 229-235. 1986
|
| 50 | ALPL
|
| The liver/bone/kidney isozyme of alkaline phosphatase (ALPL) is codedby a gene on chromosome 1.
|
| Swallow DM, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 756. 1985
|