Article
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
Matrix biology : journal of the International Society for Matrix Biology - 1 Oct 1998
Rossi A, Kaitila I, Wilcox W R, Rimoin D L, Steinmann B, Cetta G, Superti-Furga A
Abstract excerpt
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene have been associated with a family of chondrodysplasias that includes diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2) and the lethal condition achondrogenesis type 1B (ACG1B). There is a correlation between the nat...
Topics
- Anion Transport Proteins
- Biological Transport
- Carrier Proteins
- Cartilage
- Cells, Cultured
- Child
- Exostoses, Multiple Hereditary
- Fetus
- Humans
- Infant
- Infant, Newborn
- Membrane Transport Proteins
- Mutation
