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Article

Autosomal-dominant cerulean cataract in a chinese family associated with gene conversion mutation in beta-B2-crystallin.

Ophthalmic research - 1 Jan 2009

Wang Li, Lin Hui, Gu Jingzhi, Su Hong, Huang Shangzhi, Qi Yanhua

Abstract excerpt

AIMS: Our purpose was to identify the genetic defect in a Chinese cerulean cataract family. METHODS: After obtaining informed consent, genomic DNA was extracted from leukocytes. Genotyping and 2-point linkage analysis were carried out using the MLINK component of the LINKAGE program package version 5.10. Mutational analysis of the candidate gene was performed by bidirectional sequencing. The structure homology...

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Source

Identifiers

PMID: 19321936
DOI: 10.1159/000209668

Genes

CRYBB2

Variants

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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