A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
Superti-Furga
A
A
Department of Pediatrics, University of Zurich, Switzerland.
Hästbacka
J
J
Rossi
A
A
van der Harten
J J
JJ
Wilcox
W R
WR
Cohn
D H
DH
Rimoin
D L
DL
Steinmann
B
B
Lander
E S
ES
Gitzelmann
R
R
D027321:Anion Transport Proteins; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000145:classification / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D011499:Protein Processing, Post-Translational; D011509:Proteoglycans / Q000378:metabolism*; D017384:Sequence Deletion; D000076988:Sulfate Transporters; D013431:Sulfates / Q000378:metabolism*
D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; D011509:Proteoglycans; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates