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Article

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Investigative ophthalmology & visual science - 1 Jul 2009

Hansen Lars, Mikkelsen Annemette, Nürnberg Peter, Nürnberg Gudrun, Anjum Iram, Eiberg Hans, Rosenberg Thomas

Abstract excerpt

PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presente...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19182255
DOI: 10.1167/iovs.08-3149

Genes

CRYBB2
HSF4
MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19182255-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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