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Article

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

Molecular vision - 5 Feb 2010

Gu Zhensheng, Ji Baohu, Wan Chunling, He Guang, Zhang Juan, Zhang Ming, Feng Guoyin, He Lin, Gao Linghan

Abstract excerpt

PURPOSE: To identify the mutant gene for autosomal dominant posterior polar congenital cataract in a four-generation Chinese pedigree. METHODS: The clinical data of patients from the family were recorded by slit-lamp photography. Genomic DNA samples from peripheral blood of the pedigree members w...

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Source

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Identifiers

PMID: 20142846
PMCID: PMC2817011

Genes

CRYBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20142846-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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