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 nature of the mutations and the clinical phenotype, but our understanding of the pathophysiology of the disorder, which...
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