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

PURPOSE: 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 hea...

Descripción completa

Detalles Bibliográficos
Autores principales: Jaijo, Teresa, Oshima, Aki, Aller, Elena, Carney, Carol, Usami, Shin-ichi, Millán, José M., Kimberling, William J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398493/
https://www.ncbi.nlm.nih.gov/pubmed/22815625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398493/
https://www.ncbi.nlm.nih.gov/pubmed/22815625

Ejemplares similares