Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by extreme genetic and clinical heterogeneity. Thus, the diagnosis is not always easily performed due to phenotypic and genetic overlap. Current clinical practices have focused on the systematic evaluation of a set of...

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Detalles Bibliográficos
Autores principales: Méndez-Vidal, Cristina, González-del Pozo, María, Vela-Boza, Alicia, Santoyo-López, Javier, López-Domingo, Francisco J., Vázquez-Marouschek, Carmen, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820429/
https://www.ncbi.nlm.nih.gov/pubmed/24227914

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820429/
https://www.ncbi.nlm.nih.gov/pubmed/24227914

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