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"Characterization of the human interleukin-2 receptor gamma chain gene."
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"The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1."
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"IL2RG mRNA, nirs splice variant 2."
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Submitted (2003-02) to the EMBL/GenBank/DDBJ databases

SeattleSNPs variation discovery resource
Submitted (2004-07) to the EMBL/GenBank/DDBJ databases

"The DNA sequence of the human X chromosome."
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"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
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"Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4."
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"Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor."
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"Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor."
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"The human T-cell leukemia/lymphotropic virus type 1 p12I proteins bind the interleukin-2 receptor beta and gammac chains and affects their expression on the cell surface."
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"Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding."
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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."
Markiewicz S. , Subtil A. , Dautry-Varsat A. , Fischer A. , de Saint Basile G.
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"Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency."
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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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"Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency."
Pepper A.E. , Buckley R.H. , Small T.N. , Puck J.M.
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"Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis."
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Hum. Genet.96:427-432(1995) [PubMed] [Europe PMC] [Abstract]

"Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency."
Puck J.M. , Pepper A.E. , Bedard P.-M. , Laframboise R.
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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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J. Clin. Invest.95:1169-1173(1995) [PubMed] [Europe PMC] [Abstract]

"Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells."
Stephan V. , Wahn V. , Le Deist F. , Dirksen U. , Broeker B. , Mueller-Fleckenstein I. , Horneff G. , Schroten H. , Fischer A. , de Saint Basile G.
N. Engl. J. Med.335:1563-1567(1996) [PubMed] [Europe PMC] [Abstract]

"B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation."
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Hum. Genet.99:677-680(1997) [PubMed] [Europe PMC] [Abstract]

"Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred."
O'Marcaigh A.S. , Puck J.M. , Pepper A.E. , De Santes K. , Cowan M.J.
J. Clin. Immunol.17:29-33(1997) [PubMed] [Europe PMC] [Abstract]

"An interleukin-2 receptor gamma chain mutation with normal thymus morphology."
Sharfe N. , Shahar M. , Roifman C.M.
J. Clin. Invest.100:3036-3043(1997) [PubMed] [Europe PMC] [Abstract]