A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP; MIM 268000) is a hereditary disease characterized by poor night vision and progressive loss of photoreceptors, eventually leading to blindness. This degenerative process primarily affects peripheral vision due to the loss of rods. Autosomal recessive RP (arRP) is c...

Descripción completa

Detalles Bibliográficos
Autores principales: Tiab, Leila, Largueche, Leila, Chouchane, Ibtissem, Derouiche, Kaouthar, Munier, Francis L., El Matri, Leila, Schorderet, Daniel F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626296/
https://www.ncbi.nlm.nih.gov/pubmed/23592920

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626296/
https://www.ncbi.nlm.nih.gov/pubmed/23592920

Ejemplares similares