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Article

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.

European journal of human genetics : EJHG - 1 Jul 2000

Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N

Abstract excerpt

We assigned the locus for a previously reported new type of autosomal dominant posterior polar cataract (CPP3) to 20p12-q12 by a genome-wide two-point linkage analysis with microsatellite markers. CPP3 is characterized by progressive, disc-shaped, posterior subcapsular opacity. The disease was seen in 10 members of a Japanese family and transmitted in an autosomal dominant fashion through four generations. We...

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Source

Identifiers

PMID: 10909854
DOI: 10.1038/sj.ejhg.5200485

Genes

BFSP1

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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