Article
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.
Cell - 23 Sept 1994
Hästbacka J, de la Chapelle A, Mahtani M M, Clines G, Reeve-Daly M P, Daly M, Hamilton B A, Kusumi K, Trivedi B, Weaver A
Abstract excerpt
Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. The disease occurs in most populations, but is particularly prevalent in Finland owing to an apparent foun...
Topics
- Amino Acid Sequence
- Anion Transport Proteins
- Antiporters
- Base Sequence
- Carrier Proteins
- Chloride-Bicarbonate Antiporters
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Cloning, Molecular
- Female
- Finland
- Genes, Recessive
- Genetic Markers
- Genomic Library