Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Superti-Furga
A
A
Department of Pediatrics, University of Zurich, University Children's Hospital, Switzerland.
Hästbacka
J
J
Wilcox
W R
WR
Cohn
D H
DH
van der Harten
H J
HJ
Rossi
A
A
Blau
N
N
Rimoin
D L
DL
Steinmann
B
B
Lander
E S
ES
Gitzelmann
R
R
D000130:Achondroplasia / Q000235:genetics*; D027321:Anion Transport Proteins; D002352:Carrier Proteins / Q000235:genetics*; D002356:Cartilage / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D017354:Point Mutation; 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; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates