四名患有X连锁重症联合免疫缺陷的日本患者白细胞介素-2受体γ链基因中的三种新突变。
Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency.
作者信息
Minegishi Y, Ishii N, Maeda H, Takagi S, Tsuchida M, Okawa H, Sugamura K, Yata J
机构信息
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Japan.
出版信息
Hum Genet. 1995 Dec;96(6):681-3. doi: 10.1007/BF00210299.
PMID:8522327
Abstract
Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.
摘要
通过对聚合酶链反应（PCR）扩增的DNA片段进行直接序列分析，在4名患有X连锁重症联合免疫缺陷的日本患者中鉴定出白细胞介素-2受体γ链基因的3种新突变。
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