Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa

BACKGROUND: Genomic mutations in about 200 genes are associated with hereditary retinal diseases. In this study, we screened for the disease-causing gene mutation in a family with X-linked retinal degenerative disease. METHODS: Pedigree data were collected and genomic DNA was isolated from periphera...

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Detalles Bibliográficos
Autores principales: Guo, Hui, Li, Jisheng, Gao, Fei, Li, Jiangxia, Wu, Xinyi, Liu, Qiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517409/
https://www.ncbi.nlm.nih.gov/pubmed/26216097
http://dx.doi.org/10.1186/s12886-015-0081-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517409/
https://www.ncbi.nlm.nih.gov/pubmed/26216097
http://dx.doi.org/10.1186/s12886-015-0081-4

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