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Disorder of collagen metabolism in a patient with osteogenesis imperfecta (lethal type): increased degree of hydroxylation of lysine in collagen types I and III

✍ Scribed by EMILIE KIRSCH; THOMAS KRIEG; KLAUS REMBERGER; HELMUT FENDEL; PETER BRUCKNER; PETER K. MÜLLER


Book ID
114726123
Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
942 KB
Volume
11
Category
Article
ISSN
0014-2972

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## Communicated by Richard G.H. Cotton Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is cha