We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not funct
A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia
โ Scribed by Andrew Donnelly; Alison Colley; Denis Crimmins; John Mulley
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 259 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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