Article
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
Brain & development - 1 Mar 2010
Wang Jingmin, Wang Huifang, Wang Yueying, Chen Tianjian, Wu Xiru, Jiang Yuwu
Abstract excerpt
Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analyzed GJA12 gene mutations in two Chinese PMLD patients and two novel mutations of GJA12...
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