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Pace, JM
Atkinson, M
Willing, MC
Wallis, G
Byers, PH
Citation: Jm. Pace et al., Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta, HUM MUTAT, 18(4), 2001, pp. 319-326
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Janz, KF
Burns, TL
Torner, JC
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Paulos, R
Willing, MC
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Authors:
Pace, JM
Kuslich, CD
Willing, MC
Byers, PH
Citation: Jm. Pace et al., Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta, J MED GENET, 38(7), 2001, pp. 443-449
Citation: Rl. Slayton et al., Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levelsof mRNA but not hnRNA in osteogenesis imperfecta type I cell strains, MATRIX BIOL, 19(1), 2000, pp. 1-9
Authors:
Wenstrup, RJ
Florer, JB
Willing, MC
Giunta, C
Steinmann, B
Young, F
Susic, M
Cole, WG
Citation: Rj. Wenstrup et al., COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS, AM J HU GEN, 66(6), 2000, pp. 1766-1776
Authors:
Raymond, MH
Schutte, BC
Torner, JC
Burns, TL
Willing, MC
Citation: Mh. Raymond et al., Osteocalcin: Genetic and physical mapping of the human gene BGLAP and its potential role in postmenopausal osteoporosis, GENOMICS, 60(2), 1999, pp. 210-217