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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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3820429/
https://ncbi.nlm.nih.gov/pubmed/24227914
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