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Items: 1 to 20 of 100

1.

Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

Forlino A, Zolezzi F, Valli M, Pignatti PF, Cetta G, Brunelli PC, Mottes M.

Hum Mol Genet. 1994 Dec;3(12):2201-6.

PMID:
7881420
2.

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.

Valli M, Mottes M, Tenni R, Sangalli A, Gomez Lira M, Rossi A, Antoniazzi F, Cetta G, Pignatti PF.

J Biol Chem. 1991 Jan 25;266(3):1872-8.

3.
6.

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.

Mottes M, Sangalli A, Valli M, Gomez Lira M, Tenni R, Buttitta P, Pignatti PF, Cetta G.

Hum Genet. 1992 Jul;89(5):480-4.

PMID:
1634225
11.
12.

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.

13.

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

Mottes M, Gomez Lira M, Zolezzi F, Valli M, Lisi V, Freising P.

Hum Mutat. 1998;12(1):71-2.

PMID:
10627137
15.
16.

A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

Rose NJ, Mackay K, Byers PH, Dalgleish R.

Hum Genet. 1995 Feb;95(2):215-8.

PMID:
7860070
18.

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