Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
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DOI：
10.1086/301984
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发表时间：
1998-08-01
影响因子：
9.8
通讯作者：
Ferguson, B
中科院分区：
文献类型：
--
作者：
Monreal, AW;Zonana, J;Ferguson, B
X连锁少汗性外胚层发育不良（XLHED）是最常见的外胚层发育不良，可导致牙齿、毛发和外分泌汗腺的异常发育。负责这种疾病的基因，EDA1，通过分离预测编码135个氨基酸的蛋白质的单个cDNA来鉴定。这种剪接形式的突变被检测到，
X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal development of teeth, hair, and eccrine sweat glands. The gene responsible for this disorder, EDA1, was identified by isolation of a single cDNA that was predicted to encode a 135-amino-acid protein. Mutations in this splice form were detected ire