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Article

Mutation altering the miR-184 seed region causes familial keratoconus with cataract.

American journal of human genetics - 11 Nov 2011

Hughes Anne E, Bradley Declan T, Campbell Malcolm, Lechner Judith, Dash Durga P, Simpson David A, Willoughby Colin E

Abstract excerpt

MicroRNAs (miRNAs) bind to complementary sequences within the 3' untranslated region (UTR) of mRNAs from hundreds of target genes, leading either to mRNA degradation or suppression of translation. We found that a mutation in the seed region of miR-184 (MIR184) is responsible for familial severe keratoconus combined with early-onset anterior polar cataract by deep sequencing of a linkage region known to contain...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21996275
DOI: 10.1016/j.ajhg.2011.09.014
PMCID: PMC3213395

Genes

INPPL1
ITGB4

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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Mutation altering the miR-184 seed region causes familial keratoconus with cataract.PMID 21996275Read ↗

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