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Article

A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

Current eye research - 1 Dec 2013

Yang Zhenfei, Su Dongmei, Li Qian, Ma Zicheng, Yang Fan, Zhu Siquan, Ma Xu

Abstract excerpt

PURPOSE: To identify the genetic defect in a three-generation Chinese family with congenital cataracts. METHODS: The phenotype of a three-generation Chinese family with congenital cataract was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the...

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Source

Identifiers

PMID: 24074001
DOI: 10.3109/02713683.2013.811260

Genes

CRYAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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