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Article

A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.

Current eye research - 1 Oct 2014

Liu Qing, Wang Kai Jie, Zhu Si Quan

Abstract excerpt

PURPOSE: To identify the genetic defect in a Chinese family with bilateral pulverulent sutural cataract. MATERIALS AND METHODS: A three-generation family with congenital cataract was recruited in the study. The study protocol followed the principles of the Declaration of Helsinki. Detailed family history and clinical data were recorded. Genomic DNA was extracted from peripheral blood leukocytes. Candidate gene...

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Source

Identifiers

PMID: 24654948
DOI: 10.3109/02713683.2014.891749

Genes

BFSP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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