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Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia.
Chan D, Freddi S, Weng YM, Bateman JF. Chan D, et al. J Biol Chem. 1999 May 7;274(19):13091-7. doi: 10.1074/jbc.274.19.13091. J Biol Chem. 1999. PMID: 10224061 Free article.
Although we have previously demonstrated haploinsufficiency as one in vivo mechanism (Chan, D., Weng, Y. M., Hocking, A. M., Golub, S., McQuillan, D. J., and Bateman, J. ...
Although we have previously demonstrated haploinsufficiency as one in vivo mechanism (Chan, D., Weng, Y. M., Hocking, A. M., G …
[No title available]
[No authors listed] [No authors listed] PMID: 34005050
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
Lamandé SR, Chessler SD, Golub SB, Byers PH, Chan D, Cole WG, Sillence DO, Bateman JF. Lamandé SR, et al. Among authors: chan d. J Biol Chem. 1995 Apr 14;270(15):8642-9. doi: 10.1074/jbc.270.15.8642. J Biol Chem. 1995. PMID: 7721766 Free article.
The C-propeptide mutations in OI64 and in another lethal osteogenesis imperfecta cell strain (OI26), which has a frameshift mutation altering the sequence of the carboxyl-terminal half of the propeptide (Bateman, J. F., Lamande, S. R., Dahl, H.-H. M., Chan, D., Masc …
The C-propeptide mutations in OI64 and in another lethal osteogenesis imperfecta cell strain (OI26), which has a frameshift mutation alterin …
4,693 results