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COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type SchmidHo, MSP; Tsang, KY; Lo, RLK; Susic, M; Mäkitie, O; Chan, TWY; Ng, VCW; Sillence, DO; BootHandford, RP; Gibson, G; Cheung, KMC; Cole, WG; Cheah, KSE; Chan, D2007120
Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: Implications for functionKwan, KM; Pang, MKM; Zhou, S; Cowan, SK; Kong, RYC; Pfordte, T; Olsen, BR; Sillence, DO; Tam, PPL; Cheah, KSE1997381
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened α2(I) chains show differential incorporation into the bone and skin extracellular matrixMundlos, S; Chan, D; Weng, YM; Sillence, DO; Cole, WG; Bateman, JF199683
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the proα1(I) chain carboxyl-terminal propeptide which impair subunit assemblyLamande, SR; Chessler, SD; Golub, SB; Byers, PH; Chan, D; Cole, WG; Sillence, DO; Bateman, JF199582
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