Article
Mutations associated with Sjögren-Larsson syndrome.
Annals of human genetics - 1 May 1997
Tsukamoto N, Chang C, Yoshida A
Abstract excerpt
Sjögren-Larsson syndrome (SLS), a rare autosomal disorder characterized by ichthyosis, spastic neurological disorders and oligophrenia, is associated with deficiency of fatty aldehyde dehydrogenase encoded by a gene on chromosome 17q11.2. Mutations of the gene (GDB symbol ALDH10) were recently id...
Topics
- Aldehyde Dehydrogenase
- Aldehyde Oxidoreductases
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Fibroblasts
- Genome, Human
- Humans
- Isoelectric Focusing
- Isoenzymes
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Sjogren-Larsson Syndrome