Cartilage disorders. The importance of being sulphated.
Mutations within a gene encoding a novel sulphate transporter cause diastrophic dysplasia. This finding has implications for the management of the disorder and for understanding the structure and function of cartilage.
Wallis
G A
GA
School of Biological Sciences, University of Manchester, UK.
D000818:Animals; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D002356:Cartilage / Q000502:physiology*; D005819:Genetic Markers; D006801:Humans; D015810:Linkage Disequilibrium; D026901:Membrane Transport Proteins; D008954:Models, Biological; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D000076988:Sulfate Transporters; D013431:Sulfates / Q000378:metabolism*
D002352:Carrier Proteins; D005819:Genetic Markers; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates