Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

PURPOSE: Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygo...

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Detalles Bibliográficos
Autores principales: Bocquet, Béatrice, Marzouka, Nour al Dain, Hebrard, Maxime, Manes, Gaël, Sénéchal, Audrey, Meunier, Isabelle, Hamel, Christian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857159/
https://www.ncbi.nlm.nih.gov/pubmed/24339724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857159/
https://www.ncbi.nlm.nih.gov/pubmed/24339724

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