1. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump
- Author
-
Carol Dobson-Stone, Jacqueline K. White, Marc Perrussel, Eugene Healy, Tom Strachan, Alain Hovnanian, Juliane Ramser, Anthony P. Monaco, Hans Lehrach, Joanna Brown, Marc Larrègue, Ralf Sudbrak, S. Carter, Colin S. Munro, M.A.K.L. Dissanayake, and Susan Burge
- Subjects
Genetic Markers ,Keratinocytes ,DNA, Complementary ,Positional cloning ,Genotype ,Pemphigus, Benign Familial ,Molecular Sequence Data ,Calcium-Transporting ATPases ,Biology ,Gene mapping ,Genetic linkage ,Genetics ,medicine ,Cell Adhesion ,Missense mutation ,Humans ,Keratosis follicularis ,Amino Acid Sequence ,Molecular Biology ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Recombination, Genetic ,Splice site mutation ,Acantholysis ,General Medicine ,Exons ,medicine.disease ,Physical Chromosome Mapping ,Molecular biology ,Introns ,Pedigree ,Hailey–Hailey disease ,Mutation ,Chromosomes, Human, Pair 3 - Abstract
Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Previous genetic linkage studies localized the gene to a 5 cM interval on human chromosome 3q21. After reducing the disease critical region to
- Published
- 2000