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Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

✍ Scribed by Antonella Forlino; Elena D'amato; Maurizia Valli; Gianni Camera; Elizabeth Hopkins; Joan C. Marini; Giuseppe Cetta; Domenico A. Coviello


Book ID
112238235
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
401 KB
Volume
62
Category
Article
ISSN
1077-3150

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In general, osteogenesis imperfecta is caused by heterozygous mutations in either of the genes encoding the alpha 1 or alpha 2 chains of type I collagen (COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In this study, si