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Article

Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.

Scientific reports - 24 May 2016

Yu Yinhui, Wu Menghan, Chen Xinyi, Zhu Yanan, Gong Xiaohua, Yao Ke

Abstract excerpt

Autosomal dominant congenital cataracts (ADCC) are clinically and genetically heterogeneous diseases. The present study recruited two Chinese families with bilateral nuclear cataract or zonular pulverulent phenotype. Direct sequencing of candidate genes identified two novel missense mutations of Cx50, Cx50P59A (c.175C > G) and Cx50R76H (c.227G > A), both co-segregated well with all affected individuals....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27216975
DOI: 10.1038/srep26551
PMCID: PMC4877569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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