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Article

Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.

Molecular vision - 20 Dec 2006

Zhang Lu, Gao Linghan, Li Zhijian, Qin Wei, Gao Weiqi, Cui Xiaobo, Feng Guoyin, Fu Songbin, He Lin, Liu Ping

Abstract excerpt

PURPOSE: To identify the mutation underlying the segregation of progressive sutural congenital cataracts in a four-generation Chinese pedigree. METHODS: Genomic DNA was extracted from the peripheral blood samples of members of the pedigree. A genome-wide scan was performed using microsatellite markers spaced at about 10 cM intervals. Linkage analysis was carried out using a Linkage software package. Ten...

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Source

Identifiers

PMID: 17200662

Genes

BFSP2
GAA

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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