title: A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
authors.affiliation: Department of Pediatrics, University of Zurich, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: J
authors.initials: J
authors.lastname: Hästbacka
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: J J
authors.initials: JJ
authors.lastname: van der Harten
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: D H
authors.initials: DH
authors.lastname: Cohn
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: E S
authors.initials: ES
authors.lastname: Lander
authors.forename: R
authors.initials: R
authors.lastname: Gitzelmann
mesh_terms: 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*
chemical_list: D027321:Anion Transport Proteins; D002352:Carrier Proteins; D026901:Membrane Transport Proteins; D011509:Proteoglycans; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates