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Items: 1 to 20 of 493

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Structural models of osteogenesis imperfecta-associated variants in the COL1A1 gene.

Mooney SD, Klein TE.

Mol Cell Proteomics. 2002 Nov;1(11):868-75.

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Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations.

Bodian DL, Madhan B, Brodsky B, Klein TE.

Biochemistry. 2008 May 13;47(19):5424-32. doi: 10.1021/bi800026k. Epub 2008 Apr 16.

PMID:
18412368
7.

A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta.

Galicka A, Wolczynski S, Lesniewicz R, Chyczewski L, Gindzienski A.

Acta Biochim Pol. 2002;49(2):443-50.

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Synthetic collagen heterotrimers: structural mimics of wild-type and mutant collagen type I.

Gauba V, Hartgerink JD.

J Am Chem Soc. 2008 Jun 11;130(23):7509-15. doi: 10.1021/ja801670v. Epub 2008 May 16.

PMID:
18481852
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Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.

Sztrolovics R, Glorieux FH, Travers R, van der Rest M, Roughley PJ.

Bone. 1994 May-Jun;15(3):321-8.

PMID:
7520724
15.

[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].

Wang Z, Xu DL, Chen Z, Hu JY, Yang Z, Wang LT.

Zhonghua Yi Xue Za Zhi. 2006 Jan 17;86(3):170-3. Chinese.

PMID:
16638323
16.

NMR conformational and dynamic consequences of a gly to ser substitution in an osteogenesis imperfecta collagen model peptide.

Li Y, Brodsky B, Baum J.

J Biol Chem. 2009 Jul 31;284(31):20660-7. doi: 10.1074/jbc.M109.018077. Epub 2009 May 18.

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Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.

Nuytinck L, T√ľkel T, Kayserili H, Apak MY, De Paepe A.

J Med Genet. 2000 May;37(5):371-5.

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Bone turnover and type I collagen C-telopeptide isomerization in adult osteogenesis imperfecta: associations with collagen gene mutations.

Garnero P, Schott AM, Prockop D, Chevrel G.

Bone. 2009 Mar;44(3):461-6. doi: 10.1016/j.bone.2008.11.006. Epub 2008 Nov 21.

PMID:
19071236
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