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Article

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

Molecular vision - 21 Jun 2007

Sullivan Lori S, Baylin Eric B, Font Ramon, Daiger Stephen P, Pepose Jay S, Clinch Thomas E, Nakamura Hisashi, Zhao Xinping C, Yee Richard W

Abstract excerpt

PURPOSE: To determine if a mutation within the coding region of the keratin 12 gene (KRT12) is responsible for a severe form of Meesmann's corneal dystrophy. METHODS: A family with clinically identified Meesmann's corneal dystrophy was recruited and studied. Electron microscopy was performed on scrapings of corneal epithelial cells from the proband. Mutations in the KRT12 gene were sought using direct genomic...

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Source

Open in PubMed Open full text

Identifiers

PMID: 17653038
PMCID: PMC2774455

Genes

KRT12

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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