Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann`s corneal dystrophy in a German family

PURPOSE: To report a novel missense mutation of the cornea specific keratin 12 (KRT12) gene in two generations of a German family diagnosed with Meesmann`s corneal dystrophy. METHODS: Ophthalmologic examination of the proband and sequencing of keratin 3 (KRT3) and KRT12 of the proband and three othe...

Full description

Saved in:
Bibliographic Details
Main Authors: Clausen, Ina, Duncker, Gernot I.W., Grünauer-Kloevekorn, Claudia
Format: Artigo
Language:Inglês
Published: Molecular Vision 2010
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2890559/
https://ncbi.nlm.nih.gov/pubmed/20577595
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items