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...

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Detalles Bibliográficos
Autores principales: Clausen, Ina, Duncker, Gernot I.W., Grünauer-Kloevekorn, Claudia
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890559/
https://www.ncbi.nlm.nih.gov/pubmed/20577595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890559/
https://www.ncbi.nlm.nih.gov/pubmed/20577595

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