Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump

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

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2000-04, Vol.9 (7), p.1131-1140
Hauptverfasser:	Sudbrak, R, Brown, J, Dobson-Stone, C, Carter, S, Ramser, J, White, J, Healy, E, Dissanayake, M, Larrègue, M, Perrussel, M, Lehrach, H, Munro, C S, Strachan, T, Burge, S, Hovnanian, A, Monaco, A P
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Calcium-Transporting ATPases - genetics Cell Adhesion Chromosomes, Human, Pair 3 DNA, Complementary - metabolism Exons Genetic Markers Genotype Humans In Situ Hybridization, Fluorescence Introns Keratinocytes - metabolism Molecular Sequence Data Mutation Pedigree Pemphigus, Benign Familial - genetics Pemphigus, Benign Familial - pathology Physical Chromosome Mapping Recombination, Genetic
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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
ISSN:	0964-6906