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Osteogenesis imperfecta type I: Second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father

✍ Scribed by Chih-Ping Chen; Yi-Ning Su; Tung-Yao Chang; Schu-Rern Chern; Chen-Yu Chen; Jun-Wei Su; Wayseen Wang

Book ID: 119376410
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 603 KB
Volume: 51
Category: Article
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2012.04.020

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## Communicated by Peter Byers Osteogenesis imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the a1 and a2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural mutations in a1(I) or a2(I) lea

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The original article to which this Erratum refers was published in Human Mutation 24: 147-154 (2004). In Table 1 of the published original article, the fourth mutation should be c.913G4C (not c.913G4A as originally printed) and it should be bolded as it is a novel mutation. In addition, the last mu

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