A C --> G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonucleas
A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease
โ Scribed by Pratt, Victoria M. ;Trofatter, James A. ;Schinzel, Albert ;Dlouhy, S. R. ;Conneally, P. M. ;Hodes, M. E.
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 313 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0148-7299
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We report a GโA 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
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