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

✍ Scribed by Oliver Semler; Lutz Garbes; Katharina Keupp; Daniel Swan; Katharina Zimmermann; Jutta Becker; Sandra Iden; Brunhilde Wirth; Peer Eysel; Friederike Koerber; Eckhard Schoenau; Stefan K. Bohlander; Bernd Wollnik; Christian Netzer

• Book ID: 119184346
• Publisher: American Society of Human Genetics
• Year: 2012
• Tongue: English
• Weight: 562 KB
• Volume: 91
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2012.06.011