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Bateman, JF, Lamande, SR, Dahl, HH, Chan, D, Mascara, T, Cole, WG.
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta..
J Biol Chem
264(19)
:
10960 -10964
1989
view publication
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Baker, AT, Ramshaw, JA, Chan, D, Cole, WG, Bateman, JF.
Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions..
Biochem J
261(1)
:
253 -257
1989
view publication
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Weil, D, D'Alessio, M, Ramirez, F, de Wet, W, Cole, WG, Chan, D, Bateman, JF.
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII..
EMBO J
8(6)
:
1705 -1710
1989
view publication
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Cole, W, Chan, D, Lamande, S, Mascara, T, Rogers, J, Bateman, J.
Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta..
Connect Tissue Res
21(1-4)
:
91 -95
1989
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COLE, WG, JAENISCH, R, BATEMAN, JF.
New Insights into the Molecular Pathology of Osteogenesis Imperfecta.
QJM
70(1)
:
1 -4
1989
view publication