A new start-codon in IFITM5 causes osteogenesis imperfecta type V

2013 ◽  
Author(s):  
Semler Oliver ◽  
Hoyer-Kuhn Heike ◽  
Garbes Lutz ◽  
Netzer Christian ◽  
Schoenau Eckhard
Keyword(s):  
Osteogenesis Imperfecta ◽  
Start Codon ◽  
Osteogenesis Imperfecta Type ◽  
Type V

scholarly journals 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

2012 ◽  
Vol 91 (2) ◽  
pp. 349-357 ◽  
Author(s):  
Oliver Semler ◽  
Lutz Garbes ◽  
Katharina Keupp ◽  
Daniel Swan ◽  
Katharina Zimmermann ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Dominant ◽  
Start Codon ◽  
Osteogenesis Imperfecta Type ◽  
Type V ◽  
Hyperplastic Callus

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

2020 ◽  
Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V

scholarly journals Osteogenesis Imperfecta Type V: A Report of Two Filipino Families and Review of Literature

2015 ◽  
Vol 49 (4) ◽  
Author(s):  
Melissa Mae P. Baluyot ◽  
Barbra Charina V. Cavan ◽  
Maria Melanie Liberty B. Alcausin
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Review Of Literature ◽  
Type V

...

scholarly journals Clinical and Radiological Manifestations of Osteogenesis Imperfecta Type V

2006 ◽  
Vol 21 (4) ◽  
pp. 709 ◽  
Author(s):  
Dong Yeon Lee ◽  
Tae-Joon Cho ◽  
In Ho Choi ◽  
Chin Youb Chung ◽  
Won Joon Yoo ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type V

The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta Type V

Bone ◽  
2006 ◽  
Vol 38 (1) ◽  
pp. 13-20 ◽  
Author(s):  
Leonid Zeitlin ◽  
Frank Rauch ◽  
Rose Travers ◽  
Craig Munns ◽  
Francis H. Glorieux
Keyword(s):  
Osteogenesis Imperfecta ◽  
Children And Adolescents ◽  
Osteogenesis Imperfecta Type ◽  
Intravenous Pamidronate ◽  
Type V

Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients

2016 ◽  
Vol 462 ◽  
pp. 201-209 ◽  
Author(s):  
Yi Liu ◽  
Jiawei Wang ◽  
Doudou Ma ◽  
Fang Lv ◽  
Xiaojie Xu ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Clinical Findings ◽  
Chinese Patients ◽  
Osteogenesis Imperfecta Type ◽  
Type V
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