Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

Background. Retinitis pigmentosa (RP) is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex. In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP) in a Chinese famil...

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Bibliographic Details
Main Authors: Qi Zhou, Jingliang Cheng, Weichan Yang, Mousumi Tania, Hui Wang, Md. Asaduzzaman Khan, Chengxia Duan, Li Zhu, Rui Chen, Hongbin Lv, Junjiang Fu
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:BioMed Research International
Online Access:http://dx.doi.org/10.1155/2015/907827

Internet

http://dx.doi.org/10.1155/2015/907827

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