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

Oliver Semler(University of Cologne), Lutz Garbes(University of Cologne), Katharina Keupp(University of Cologne), Daniel Swan(Oxford Gene Technology (United Kingdom)), Katharina Zimmermann(University of Cologne), Jutta Becker(University of Cologne), Sandra Iden(University of Cologne), Brunhilde Wirth(University of Cologne), Peer Eysel(University of Cologne), Friederike Koerber(University of Cologne), Eckhard Schöenau(University of Cologne), Stefan K. Bohlander(Philipps University of Marburg), Bernd Wollnik(University of Cologne), Christian Netzer(University of Cologne)
The American Journal of Human Genetics
August 1, 2012
10.1016/j.ajhg.2012.06.011
Cited by 239Open Access
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