Targeted next-generation sequencing extends the phenotypic and mutational spectrums for EYS mutations

PURPOSE: We aim to determine genetic lesions with a phenotypic correlation in four Chinese families with autosomal recessive retinitis pigmentosa (RP). METHODS: Medical histories were carefully reviewed. All patients received comprehensive ophthalmic evaluations. The next-generation sequencing (NGS)...

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Detalles Bibliográficos
Autores principales: Gu, Shun, Tian, Yuanyuan, Chen, Xue, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911908/
https://www.ncbi.nlm.nih.gov/pubmed/27375351

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