Osaka H, Inoue K, Kawanishi C, Yamada Y, Onishi H, Sugiyama N, Suzuki K, Nezu A, Kimura S, Kosaka K
Department of Pediatrics, School of Medicine, Urafune Hospital of Yokohama City University, Japan.
Hum Genet. 1995 Apr;95(4):461. doi: 10.1007/BF00208978.
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.