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Article

[Report of gene mutation hot spots analysis in one congenital cataract pedigree].

Yan ke xue bao = Eye science - 1 Jul 2004

Zhang Xinyu, Liu Yizhi, Luo Lixia, Wu Mingxing, Cheng Gang, Hu Bin

Abstract excerpt

PURPOSE: To analyse autosomal dominant gene mutation hot spots in a four-generation Chinese congenital cataract pedigree. METHODS: Nineteen family members of the pedigree (including eight affected and eleven unaffected individuals) were enrolled into the study with informed consent. The eight affected individuals underwent a full ophthalmologic and general examination to rude out any concomitant disorders. The...

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Source

Identifiers

PMID: 15301114

Genes

BFSP2
CRYAA
CRYAB
CRYBA1
CRYBB2
CRYGC
CRYGD
GJA3
GJA8
MIP

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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