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Article

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

International journal of molecular medicine - 1 Aug 2014

Li Shiqiang, Guan Liping, Fang Shaohua, Jiang Hui, Xiao Xueshan, Yang Jianhua, Wang Panfeng, Yin Ye, Guo Xiangming, Wang Jun, Zhang Jianguo, Zhang Qingjiong

Abstract excerpt

Mutations in almost 200 genes are associated with hereditary retinal diseases. Of these diseases, retinitis pigmentosa (RP) is the most common and is genetically and clinically highly heterogeneous. At least 62 genes are associated with RP and mutations in these genes account for approximately half of the cases of disease. In the present study, mutations in the CHM gene, which are known to associate with...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24913019
DOI: 10.3892/ijmm.2014.1797

Genes

CHM

Variants

Provenance

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Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.PMID 24913019Read ↗

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