Article
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
Nature genetics - 1 Aug 1996
Kere J, Srivastava A K, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen E Y, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D
Abstract excerpt
Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200-kilobase intron, en...
Topics
- Adult
- Alleles
- Alopecia
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Artificial, Yeast
- CpG Islands
- DNA Primers
- DNA, Complementary
- Ectodermal Dysplasia
- Ectodysplasins
- Gene Expression
- Genetic Linkage
- Hair