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Article

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.

Molecular vision - 1 Jan 2012

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

Abstract excerpt

PURPOSE: The purpose of this study was to identify the disease-causing mutation and the molecular phenotype that are responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family. METHODS: The family history and clinical data were recorded. The patients were given a physical examination and their blood samples were collected for DNA extraction. Direct sequencing was...

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Source

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Identifiers

PMID: 22665976
PMCID: PMC3365137

Genes

CRYBA1

Provenance

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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