Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Ophthalmic Genet
; 30(2): 96-8, 2009 Jun.
Article
en En
| MEDLINE
| ID: mdl-19373681
ABSTRACT
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa (adRP). Examination of 160 adRP patients from continental Europe revealed nine exonic single nucleotide variants, eight of which reside in the coding region; three synonymous single nucleotide polymorphisms (SNPs; c.2319T > C, c.2991T > C and c.1560A > G), three nonsynonymous SNPs (c.58C > T/p.P20S, c.74C >G/p.S25W and c.1730C > A/p.S577Y) and two novel missense mutations (c.1205A > C/p.Q402P and c.1818T > G/p.S606R). Whether the latter two variants represent adRP causing mutations awaits further analysis.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Proteínas Nucleares
/
Retinitis Pigmentosa
/
Ubiquitina-Proteína Ligasas
/
Mutación
/
Proteínas de Neoplasias
Límite:
Humans
País/Región como asunto:
Europa
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Alemania