髓磷脂蛋白（PLP）基因中的MvaI多态性
MvaI polymorphism in the proteolipid protein (PLP) gene.
作者信息
Osaka H, Inoue K, Kawanishi C, Yamada Y, Onishi H, Sugiyama N, Suzuki K, Nezu A, Kimura S, Kosaka K
机构信息
Department of Pediatrics, School of Medicine, Urafune Hospital of Yokohama City University, Japan.
出版信息
Hum Genet. 1995 Apr;95(4):461. doi: 10.1007/BF00208978.
PMID:7705847
Abstract
We report a rare polymorphism in the human proteolipid protein (PLP) gene. A synonymous mutation, 168 A-->G, was detected in exon 2 of the PLP gene. Mutations in this gene have been reported in some cases of Pelizaeus-Merzbacher disease.
摘要
我们报告了人类蛋白脂蛋白（PLP）基因中一种罕见的多态性。在PLP基因的第2外显子中检测到一个同义突变，即168 A→G。该基因的突变在一些佩利措伊斯-梅茨巴赫病病例中已有报道。
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