A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

Background: The molecular basis of Meesmann's epithelial corneal dystrophy (MECD) has recently been attributed to mutations in the cornea specific keratin genes KRT3 and KRT12. The mechanisms by which these mutations cause the Meesmann's phenotype are not clear. This study presents new dat...

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Veröffentlicht in:	British journal of ophthalmology 2002-07, Vol.86 (7), p.729-732
Hauptverfasser:	Irvine, A D, Coleman, C M, Moore, J E, Swensson, O, Morgan, S J, McCarthy, J H, Smith, F J D, Black, G C M, McLean, W H I
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Basement Membrane - ultrastructure Biological and medical sciences Contact lenses Cornea Corneal diseases Corneal Dystrophies, Hereditary - genetics Corneal Dystrophies, Hereditary - pathology Corneal Dystrophies, Hereditary - surgery corneal dystrophy Corneal Transplantation Cysts Disease Diseases of cornea, anterior segment and sclera Epithelium, Corneal - ultrastructure Gene mutations Genetic aspects Humans inherited eye disease Keratin Keratinocytes - ultrastructure Male Medical sciences Microscopy Mutation Mutation, Missense Ophthalmology Physiological aspects Scientific Correspondence Skin Stem cells Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases Surgery of the eye and orbit Transplantation, Homologous
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