A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
- 1 December 1999
- journal article
- case report
- Published by Elsevier in American Journal of Ophthalmology
- Vol. 128 (6) , 687-691
- https://doi.org/10.1016/s0002-9394(99)00317-7
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlationBritish Journal of Dermatology, 1999
- Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyNature Genetics, 1997
- Human keratin diseases:Experimental Dermatology, 1996
- Intermediate filaments in diseaseCurrent Opinion in Cell Biology, 1995
- Cornea-specific expression of K12 keratin during mouse developmentCurrent Eye Research, 1993
- Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin diseaseCell, 1991
- Existence of slow-cycling limbal epithelial basal cells that can be preferentially stimulated to proliferate: Implications on epithelial stem cellsCell, 1989
- Differentiation-related expression of a major 64K corneal keratin in vivo and in culture suggests limbal location of corneal epithelial stem cells.The Journal of cell biology, 1986
- The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors and cultured cellsPublished by Elsevier ,1982
- Meesmann'S Epithelial Dystrophy of the CorneaAmerican Journal of Ophthalmology, 1977