Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
Rossi A, Bonaventure J, Delezoide AL, Cetta G, Superti-Furga A.
Rossi A, et al.
J Biol Chem. 1996 Aug 2;271(31):18456-64. doi: 10.1074/jbc.271.31.18456.
J Biol Chem. 1996.
PMID: 8702490
Free article.
Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti-Furga, A., Hastbacka, J., Wilcox, W. R., Cohn, D. H., van der Harten, J. J., Rossi, …
Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chlorid …