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Article

Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations.

Molecular vision - 13 Jul 2007

Lu Shasha, Zhao Chen, Jiao Hong, Kere Juha, Tang Xin, Zhao Feng, Zhang Xiumei, Zhao Kanxing, Larsson Catharina

Abstract excerpt

PURPOSE: To characterize the disease-causing mutations and related phenotypes in two Chinese families with autosomal dominant congenital cataract. METHODS: Family members were clinically characterized by a complete eye examination. Genome-wide linkage screening was performed in Family 1 using a 10K single nucleotide polymorphism approach followed by genotyping of microsatellite markers from the regions with...

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Identifiers

PMID: 17653060

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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