Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa

PURPOSE: To investigate the genetic basis and its relationship to the clinical manifestations in a four generation Chinese family with autosomal dominant retinitis pigmentosa. METHODS: Ophthalmologic examinations including fundus photography, fundus autofluorescence imaging, fundus fluorescein angio...

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Detalles Bibliográficos
Autores principales: Gao, Meng, Zhang, Su, Liu, Chunjie, Qin, Yayun, Archacki, Stephen, Jin, Ling, Wang, Yong, Liu, Fei, Chen, Jiaxiang, Liu, Ying, Wang, Jiuxiang, Huang, Mi, Liao, Shengjie, Tang, Zhaohui, Guo, An Yuan, Jiang, Fagang, Liu, Mugen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4812529/
https://www.ncbi.nlm.nih.gov/pubmed/27081294

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