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Osteogenesis imperfecta: Biochemical and clinical evaluation of 13 cases

✍ Scribed by Krieg, T. ;Kirsch, E. ;Matzen, K. ;M�ller, P. K.


Publisher
Springer-Verlag
Year
1981
Tongue
English
Weight
323 KB
Volume
59
Category
Article
ISSN
1432-1440

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Perinatal lethal osteogenesis imperfecta (OMIM# 166210) is the result of heterozygous mutations of the COL1A1 and COL1A2 genes. Here we describe the molecular defects responsible for four cases of lethal OI. Two glycine substitutions within the COL1A1 gene (G478S, G994D) and two glycine substitution