| Literature DB >> 7539213 |
D O Kleindorfer1, S R Dlouhy, V M Pratt, M C Jones, J A Trofatter, M E Hodes.
Abstract
We describe an in-frame deletion of parts of exons 3 and 4 of the proteolipid protein gene (PLP), with all of the intervening sequence, in a 3-generation family with Pelizaeus-Merzbacher disease. The mutation removes 49 amino acids of the PLP.Entities:
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Year: 1995 PMID： 7539213 DOI： 10.1002/ajmg.1320550404
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299