A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder associated with bone fragility and susceptibility to fractures after minimal trauma. OI type V has an autosomal-dominant pattern of inheritance and is not caused by mutations in the type I collagen genes COL1A1 and C...

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Bibliographische Detailangaben
Hauptverfasser: Semler, Oliver, Garbes, Lutz, Keupp, Katharina, Swan, Daniel, Zimmermann, Katharina, Becker, Jutta, Iden, Sandra, Wirth, Brunhilde, Eysel, Peer, Koerber, Friederike, Schoenau, Eckhard, Bohlander, Stefan K., Wollnik, Bernd, Netzer, Christian
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3415541/
https://ncbi.nlm.nih.gov/pubmed/22863195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.06.011
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