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Osteogenesis imperfecta due to a novel heterozygous G1006A substitution in the α2(I) chain of type I collagen

✍ Scribed by Lu, J.; Cole, W.G.


Book ID
122986860
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
98 KB
Volume
14
Category
Article
ISSN
0945-053X

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Osteogenesis imperfecta (OI) is a congenital disease of connective tissue, most often caused by single amino acid substitutions of glycine residues within the triple helical region of collagen I. Collagen I consists of two alpha 1 chains and one alpha 2 chain. Thus, a substitution in the alpha 1(I)