We report a GβA transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu
β¦ LIBER β¦
Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of trichorhinophalangeal syndrome type I
β Scribed by A. Rossi; V. Devirgiliis; V. Panasiti; R.G. Borroni; M. Carlesimo; M. Gentile; F. Cariola; S. Calvieri
- Book ID
- 108669651
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 314 KB
- Volume
- 157
- Category
- Article
- ISSN
- 0007-0963
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