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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Detalles Bibliográficos
Autores principales: Zhou, Qi, Cheng, Jingliang, Yang, Weichan, Tania, Mousumi, Wang, Hui, Khan, Md. Asaduzzaman, Duan, Chengxia, Zhu, Li, Chen, Rui, Lv, Hongbin, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449926/
https://www.ncbi.nlm.nih.gov/pubmed/26075273
http://dx.doi.org/10.1155/2015/907827

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449926/
https://www.ncbi.nlm.nih.gov/pubmed/26075273
http://dx.doi.org/10.1155/2015/907827

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