Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14
- 1 July 2006
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 126 (7) , 1654-1657
- https://doi.org/10.1038/sj.jid.5700296
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos DiseaseAmerican Journal of Human Genetics, 2006
- Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in PlectinJournal of Investigative Dermatology, 2003
- Epidermolysis Bullosa Simplex in IsraelArchives of Dermatology, 2003
- Genetics of dark skin in miceGenes & Development, 2003
- Keratin 14 Point Mutations at Codon 119 of Helix 1A Resulting in Different Epidermolysis Bullosa Simplex PhenotypesJournal of Investigative Dermatology, 2001
- Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosaJournal of the American Academy of Dermatology, 2000
- Epidermolysis bullosa simplex with mottled pigmentationBritish Journal of Dermatology, 1993
- Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene AbnormalitiesScience, 1991
- Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysesCell, 1991
- Epidermolysis bullosa simplex and mottled pigmentation: A new dominant syndromeClinical Genetics, 1979