1. Inicio
  2. Publicaciones
  3. Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Oshima A
  • Carney C
  • Usami S
  • Kimberling WJ

Grupos

Abstract

PCDH15 codes for protocadherin-15, a cell-cell adhesion protein essential in the morphogenesis and cohesion of stereocilia bundles and in the function or preservation of photoreceptor cells. Mutations in the PCDH15 gene are responsible for Usher syndrome type I (USH1F) and non-syndromic hearing loss (DFNB23). The purpose of this work was to perform PCDH15 mutation screening to identify the genetic cause of the disease in a cohort of Spanish patients with Usher syndrome type I and establish phenotype-genotype correlation.

Datos de la publicación

ISSN/ISSNe:
1090-0535, 1090-0535

MOLECULAR VISION  MOLECULAR VISION

Tipo:
Article
Páginas:
1719-1726
DOI:
PubMed:
22815625
Factor de Impacto:
1,068 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 13

Documentos

  • No hay documentos

Métricas

Filiaciones mostrar / ocultar

Compartir