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Article

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.

European journal of ophthalmology - 1 May 2021

Ji Yanan, Zhao Xiangyu, Zhang Juanmei, Zhang Dan, Tian Chunliu, Zhang Linlin, Zhao Youcai, Zhao Jun

Abstract excerpt

OBJECTIVE OF THE STUDY: To identify the pathogenic gene and mutation site of a Chinese family with congenital cataract. METHODS: Eight family members and 100 controls were employed, and targeted exome sequencing was used to identify the genetically pathogenic factor of the proband. RESULTS: Targeted next-generation sequencing identified a novel missense mutation c.209A>C (p.Q70P) of CRYBB1 gene in the family....

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PMID: 32223445
DOI: 10.1177/1120672120914497

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