Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.

Li Gan,Chen Yang,Yi Shu, Fang Liu, Ruiting Sun, Bolin Deng,Jiaxin Xu,Guo Huang,Chao Qu,Bo Gong,Jing Li

Clinica Chimica Acta（2020）

引用 2|浏览17

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摘要

•A novel nonsense CDHR1 mutation was identified in a Chinese family with arRP.•Whole exome sequencing is an efficient method for identifying pathogenic genes of RP.•Our analysis expanded the CDHR1 mutation spectrum of RP in the Chinese population.

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关键词

Autosomal recessive retinitis pigmentosa (arRP),Cadherin-Related Family Member 1 (CDHR1),Homozygous mutation,Exome sequencing

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