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Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump
- Source :
- Human molecular genetics. 9(7)
- Publication Year :
- 2000
-
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
- 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
Subjects
Details
- ISSN :
- 09646906
- Volume :
- 9
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- Human molecular genetics
- Accession number :
- edsair.doi.dedup.....b3c32c515fb0d16860b5ff5fbc316a24