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Clin Genet. 2013 Aug;84(2):120-7. doi: 10.1111/cge.12182. Epub 2013 Jun 10.

Genetics of human cataract.

Author information

1
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, MO, USA.

Abstract

The pathogenesis of inherited cataracts of all kinds recapitulates the developmental and cell biology of the lens. Just as each novel mutation provides additional information about the structural or functional biology of the affected gene, each newly identified gene provides insight into the developmental and cellular biology of the lens. The set of genes currently known to be associated with cataract is far from complete, especially for age-related cataract, and there is much additional information to be discovered through further genetic studies.

KEYWORDS:

cataract; genetics; lens; mutations

PMID:
23647473
PMCID:
PMC3991604
DOI:
10.1111/cge.12182
[Indexed for MEDLINE]
Free PMC Article

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