Article
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
American journal of human genetics - 1 Aug 1998
Monreal A W, Zonana J, Ferguson B
Abstract excerpt
X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal development of teeth, hair, and eccrine sweat glands. The gene responsible for this disorder, EDA1, was identified by isolation of a single cDNA that was predicted to encode a...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Ectodermal Dysplasia
- Exons
- Female
- Gene Expression
- Gene Library
- Genetic Variation
- Humans
- Liver
- Male
- Membrane Proteins
- Mice
- Molecular Sequence Data
- Morphogenesis
- Mutation