| 1 | IL2RG, SCIDX1
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| A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype.
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| Ginn SL, Smyth C, Wong M, Bennetts B, Rowe PB, Alexander IE.
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| Hum Mutat 23(5):522-3. 2004
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| 2 | IL2RG, SCIDX1
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| Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
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| Kumaki S, Ishii N, Minegishi M, Ohashi Y, Hakozaki I, Nonoyama S, Imai K, Morio T, Tsuge I, Sakiyama Y, Miyanoshita A, Miura J, Mayumi M, Heike T, Katamura K, Takada H, Izumi I, Kamizono J, Hibi S, Sasaki H, Kimura M, Kikuta A, Date Y, Sako M, Tanaka H, Sano K, Sugamura K, Tsuchiya S.
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| Hum Genet 107(4):406-8. 2000
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| 3 | IL2RG, SCIDX1
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| A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.
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| Kanai N, et al.
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| Hum Genet 104 : 36-42. 1999
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| 4 | SCIDX1
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| A novel mutant gammac chain from a patient with typical phenotype of X-linked severe combined immunodeficiency (SCID) has partial signalling function for mediating IL-2 and IL-4 receptor action.
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| Kumaki S, et al.
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| Clin Exp Immunol 115(2):356-61. 1999
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| 5 | IL2RG, SCIDX1
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| Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.
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| Puck JM, et al.
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| Blood 89 : 1968-1977. 1997
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| 6 | IL2RG, SCIDX1
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| B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.
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| Jones AM, Clark PA, Katz F, Genet S, McMahon C, Alterman L, Cant A, Kinnon C.
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| Hum Genet 99(5):677-80. 1997
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| 7 | IL2RG, SCIDX1
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| Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
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| Puck JM, et al.
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| J Clin Invest 95 : 895-899. 1995
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| 8 | IL2RG, SCIDX1
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| Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.
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| Schmalstieg FC, et al.
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| J Clin Invest 95 : 1169-1173. 1995
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| 9 | SCIDX1, IL2RG
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| Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
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| Tassara C, et al.
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| Hum Mol Genet 4 : 1693-1695. 1995
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| 10 | IL2RG, SCIDX1
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| Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
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| Pepper AE, et al.
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| Am J Hum Genet 57 : 564-571. 1995
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| 11 | IL2RG, SCIDX1
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| Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.
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| Markiewicz S, et al.
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| Genomics 21 : 291-293. 1994
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| 12 | IL2RG, SCIDX1
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| Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.
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| DiSanto JP, et al.
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| Proc Natl Acad Sci U S A 91 : 9466-9470. 1994
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| 13 | SCIDX1
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| Refinement of linkage of human severe comnbined immunodeficinecy (SCIDXI) to polymorphic markers in Xq13.
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| Puck JM, et al.
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| Am J Hum Genet 53 : 176-184. 1993
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| 14 | SCIDX1
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| Fine mapping of the human SCIDX1 locus at Xq12-13.1.
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| Markiewicz S, et al.
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| Hum Mol Genet 2 : 651-654. 1993
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| 15 | SCIDX1
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| Genetic study of a new X-linked recessive immunodeficiency syndrome.
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| Saint Basile G de, et al.
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| J Clin Invest 89 : 861-866. 1992
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| 16 | SCIDX1
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| Update on linkage of X-linked severe combined immunodeficiency (SCIDX1) to loci in Xq13.
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| Puck JM, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2082-2083. 1991
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| 17 | SCIDX1
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| Subregional localization and large scale analysis of Xq13 region harboring SCIDX1.
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| Yang H, et al.
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| Am J Hum Genet 49S : 393. 1991
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| 18 | SCIDX1
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| Narrowing the boundaries for X-linked severe combined immunodeficiency (SCIDX1) in Xq13.1-q21.1 by linkage and deletion analysis.
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| Puck JM, et al.
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| Am J Hum Genet 47 : A195. 1990
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| 19 | SCIDX1
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| X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis.
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| Puck JM, Nussbaum RL, Smead DL, Conley ME.
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| Am J Hum Genet 44 : 724-730. 1989
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| 20 | SCIDX1
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| Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male.
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| Goodship J, et al.
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| Hum Genet 84 : 11-14. 1989
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| 21 | SCIDX1
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| Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.
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| Saint Basile G de, et al.
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| Proc Natl Acad Sci U S A 84 : 7576-7579. 1987
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