Isolation and Chromosomal Localization of a Cornea-Specific Human Keratin 12 Gene and Detection of Four Mutations in Meesmann Corneal Epithelial Dystrophy
- 1 December 1997
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 61 (6) , 1268-1275
- https://doi.org/10.1086/301650
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyNature Genetics, 1997
- Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE)Journal of Investigative Dermatology, 1994
- Missing links: Weber–Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton functionNature Genetics, 1993
- A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simples: δE375Human Molecular Genetics, 1993
- A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for DiagnosisJournal of Investigative Dermatology, 1993
- A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplexNature Genetics, 1993
- Keratin Intermediate Filament StructureJournal of Molecular Biology, 1993
- The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro.The Journal of cell biology, 1992
- Chemical cross‐linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher‐level complex between protofilamentsEuropean Journal of Biochemistry, 1992
- Structure of α-keratin: Structural implication of the amino acid sequences of the type I and type II chain segmentsJournal of Molecular Biology, 1977