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Browsing by Author Sillence, DO
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Showing results 2 to 4 of 4
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Title
Author(s)
Issue Date
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid
Journal:
Human Molecular Genetics
Ho, 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, D
2007
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 assembly
Journal:
Journal of Biological Chemistry
Lamande, SR
Chessler, SD
Golub, SB
Byers, PH
Chan, D
Cole, WG
Sillence, DO
Bateman, JF
1995
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 matrix
Journal:
Journal of Biological Chemistry
Mundlos, S
Chan, D
Weng, YM
Sillence, DO
Cole, WG
Bateman, JF
1996