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Article

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

Human genetics - 1 May 2007

Ramachandran Ramya Devi, Perumalsamy Vijayalakshmi, Hejtmancik J Fielding

Abstract excerpt

A genome wide scan in a consanguineous family of Indian origin with autosomal recessive developmental cataracts was performed by two-point linkage analysis with 382 microsatellite markers. It showed linkage to markers on chromosome 20q, between D20S852 and D20S912, with a maximum lod score of 5.4 obtained with D20S860. This region encompasses the beaded filament structural protein 1 (BFSP1) gene. Direct...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17225135
DOI: 10.1007/s00439-006-0319-6

Genes

BFSP1

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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