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Article

Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

American journal of ophthalmology - 1 Apr 2006

Geyer David D, Spence M Anne, Johannes Meriam, Flodman Pamela, Clancy Kevin P, Berry Rebecca, Sparkes Robert S, Jonsen Matthew D, Isenberg Sherwin J, Bateman J Bronwyn

Abstract excerpt

PURPOSE: To further elucidate the cataract phenotype, and identify the gene and mutation for autosomal dominant cataract (ADC) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13. DESIGN: Observational case series and laboratory experimental study. METHODS: We examined two at-risk individuals in ADC2. We...

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Source

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Identifiers

PMID: 16564824
DOI: 10.1016/j.ajo.2005.11.008
PMCID: PMC1463993

Genes

MIP

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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Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.PMID 16564824Read ↗

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