Article
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 7 Jul 1998
Fitzky B U, Witsch-Baumgartner M, Erdel M, Lee J N, Paik Y K, Glossmann H, Utermann G, Moebius F F
Abstract excerpt
The Smith-Lemli-Opitz syndrome (SLOS) is an inborn disorder of sterol metabolism with characteristic congenital malformations and dysmorphias. All patients suffer from mental retardation. Here we identify the SLOS gene as a Delta7-sterol reductase (DHCR7, EC 1.3.1. 21) required for the de novo bi...
Topics
- Amino Acid Sequence
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Cloning, Molecular
- Female
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Sequence Alignment
- Smith-Lemli-Opitz Syndrome