Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene

Autor:	C, Bond, X, Si, M, Crisp, P, Wong, G W, Paulson, C P, Boesel, S R, Dlouhy, M E, Hodes
Rok vydání:	1997
Předmět:	Adult Male Paraplegia X Chromosome Base Sequence Genetic Linkage Brain Diffuse Cerebral Sclerosis of Schilder DNA Pedigree Spinal Cord Codon Nonsense Child Preschool Humans Point Mutation Female Myelin Proteolipid Protein Polymorphism Single-Stranded Conformational
Zdroj:	American journal of medical genetics. 71(3)
ISSN:	0148-7299
Popis:	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 functional. Six other relatives were analyzed for the mutation and two female carriers were identified. Autopsy data on one male are presented.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::b22ea5af6782ba573d73a2412365b6ca https://pubmed.ncbi.nlm.nih.gov/9268109 Zobrazit plný text záznamu Plný text