Article
Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.
Human molecular genetics - 1 Oct 1998
Cichon S, Anker M, Vogt I R, Rohleder H, Pützstück M, Hillmer A, Farooq S A, Al-Dhafri K S, Ahmad M, Haque S, Rietschel M, Propping P, Kruse R, Nöthen M M
Abstract excerpt
Complete or partial congenital absence of hair (congenital alopecia) may occur isolated or with associated defects. The majority of families with isolated congenital alopecia has been reported to follow an autosomal recessive mode of inheritance (MIM 203655). We have previously mapped the gene fo...
Topics
- Adult
- Alopecia
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 8
- Cloning, Molecular
- Female
- Genes, Recessive
- Humans
- Infant