Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology

Serine for glycine substitutions in type I collagen have been described in seven cases of lethal type II osteogenesis imperfecta (OI), and six cases of nonlethal OI. We describe here two cases of moderately severe type IV OI with serine substitutions at alpha 1(I) Gly352 and alpha 2(I) Gly922, respe...

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Veröffentlicht in:	The Journal of biological chemistry 1993-02, Vol.268 (4), p.2667-2673
Hauptverfasser:	MARINI, J. C, LEWIS, M. B, QIN WANG, CHEN, K. J, ORRISON, B. M
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence Biological and medical sciences characterization Child Child, Preschool collagen Collagen - chemistry Collagen - genetics Cyanogen Bromide Diseases of the osteoarticular system Female glycine Glycine - chemistry Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations man Medical sciences Molecular Sequence Data Mutation Nucleic Acid Hybridization Oligodeoxyribonucleotides - chemistry osteogenesis imperfecta Osteogenesis Imperfecta - genetics Peptide Fragments - chemistry Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Procollagen - chemistry Protein Denaturation RNA, Messenger - genetics Serine - chemistry substitutions type I
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