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Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing

BACKGROUND: About 37 genes have been reported to be involved in autosomal recessive retinitis pigmentosa, a hereditary retinal disease. However, causative genes remain unclear in a lot of cases. METHODS: Two sibs of a Chinese family with ocular disease were diagnosed in Eye and ENT Hospital of Fudan...

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Detalles Bibliográficos
Autores principales:	Wang, Min, Gan, Dekang, Huang, Xin, Xu, Gezhi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938971/ https://www.ncbi.nlm.nih.gov/pubmed/27391953 http://dx.doi.org/10.1186/s12886-016-0281-6

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