A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
复制标题
DOI：
10.1038/ng1327
复制
发表时间：
2004-04-01
期刊：
影响因子：
30.8
通讯作者：
Minassian, BA
中科院分区：
文献类型：
--
作者：
Mnatzakanian, GN;Lohi, H;Minassian, BA
80% 的患者中，Rett 综合征是由 MECP2 基因突变引起的。我们描述了一种以前未知的 MeCP2 亚型。该亚型特有的突变以及迄今为止尚未发现的针对先前识别的蛋白质的特异突变表明新发现的分子在雷特综合征的发病机制中发挥着重要作用。
Rett syndrome is caused by mutations in the gene MECP2 in 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome.