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Article

A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.

Cornea - 1 Jan 2008

Nielsen Kim, Orntoft Torben, Hjortdal Jesper, Rasmussen Tommy, Ehlers Niels

Abstract excerpt

PURPOSE: Meesmann dystrophy is a rare inherited corneal disease. This is the description of a unique family in Denmark. METHODS: The family members were examined by biomicroscopy. Blood samples were collected. DNA from the leukocyte population was isolated, and the cytokeratin 12 (KRT12) gene was partially sequenced. RESULTS: This Danish family harbors a 451G-->T mutation. All patients in this family that harbor...

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Identifiers

PMID: 18245975
DOI: 10.1097/ICO.0b013e31815652fd

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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