Article
Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
Human genetics - 1 Oct 2000
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
Abstract excerpt
X-linked severe combined immunodeficiency (X-SCID) is a rare fatal disease that is caused by mutations in the gene encoding the gammac chain. In this study, 27 unrelated Japanese patients with X-SCID were examined in terms of their genetic mutations and surface expression of the gammac chain. Among 25 patients examined, excluding two patients with large deletions, 23 different mutations were identified in the...
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