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説明
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.
収録刊行物
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- Human Genetics
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Human Genetics 95 1995-04-01
Springer Science and Business Media LLC