Article
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
Nature genetics - 1 Oct 1998
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt M A
Abstract excerpt
Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants an...
Topics
- Adult
- Base Sequence
- Child
- Chromosomes, Human, Pair 4
- Cloning, Molecular
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Membrane Proteins
- Microsatellite Repeats
- Molecular Sequence Data
- Mutation