Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
Genomics
; 14(3): 805-7, 1992 Nov.
Article
em En
| MEDLINE
| ID: mdl-1427912
ABSTRACT
Using single-strand conformation polymorphism electrophoresis, heteroduplex analysis, and direct sequencing, we have searched for possible disease-causing mutations in the adRP family in which we originally found tight linkage of the disease to 6p. We have now identified a single base change in exon 2, which results in the replacement of a serine residue at codon 212 for a glycine residue. The mutation cosegregates with the disease with a lod score of 12.1 at theta = 0.0.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rodopsina
/
Cromossomos Humanos Par 6
/
Glicoproteínas de Membrana
/
Retinose Pigmentar
/
Genes Dominantes
/
Proteínas de Filamentos Intermediários
/
Mutação
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Irlanda