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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 …
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
Valli M, Mottes M, Tenni R, Sangalli A, Gomez Lira M, Rossi A, Antoniazzi F, Cetta G, Pignatti PF. Valli M, et al. Among authors: rossi a. J Biol Chem. 1991 Jan 25;266(3):1872-8. J Biol Chem. 1991. PMID: 1988452 Free article.
Cultured fibroblasts from a patient affected with a moderate form of osteogenesis imperfecta were defective for the synthesis of type I collagen molecules; about half of the alpha 1(I) chains contained a cysteine residue in the triple helical domain and a
Cultured fibroblasts from a patient affected with a moderate form of osteogenesis imperfecta were defective for the synthesis …
7,208 results