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Article

A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.

Molecular vision - 1 Jan 2012

Su Dongmei, Guo Yuanyuan, Li Qian, Guan Lina, 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 cataracts was recruited. Detailed family history and clinical data of the family were recorded. Candidate gene sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the...

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Identifiers

PMID: 23288997
PMCID: PMC3534140

Genes

CRYAA

Variants

Provenance

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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