Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families

Among inherited retinal dystrophies, autosomal recessive retinitis pigmentosa (arRP) is the most genetically heterogenous condition with 32 genes currently known that account for ∼60 % of patients. Molecular diagnosis thus requires the tedious systematic sequencing of 506 exons. To rapidly identify...

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Main Authors: Hebrard, Maxime, Manes, Gaël, Bocquet, Béatrice, Meunier, Isabelle, Coustes-Chazalette, Delphine, Hérald, Emilie, Sénéchal, Audrey, Bolland-Augé, Anne, Zelenika, Diana, Hamel, Christian P
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3230368/
https://ncbi.nlm.nih.gov/pubmed/21792230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.133
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