Article
Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.
The Journal of investigative dermatology - 1 Jul 1997
De Laurenzi V, Rogers G R, Tarcsa E, Carney G, Marekov L, Bale S J, Compton J G, Markova N, Steinert P M, Rizzo W B
Abstract excerpt
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Patients with SLS have deficient activity of fatty aldehyde dehydrogenase (FALDH), an enzyme involved in long-chain fatty alcohol oxid...
Topics
- Aldehyde Oxidoreductases
- Alleles
- DNA, Complementary
- Haplotypes
- Humans
- Mutation
- Scandinavian and Nordic Countries
- Sjogren-Larsson Syndrome
- Sweden