Novel splicing mutation in FKBP10 gene in a patient with moderate/severe form of osteogenesis imperfecta

2013 ◽  
Author(s):  
Venturi Giacomo ◽  
Gandini Alberto ◽  
Monti Elena ◽  
Corradi Massimiliano ◽  
Vincenzi Monica ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Splicing Mutation

Personalized surgery approach in severe form of osteogenesis imperfecta type III

2019 ◽  
Vol 28 (5) ◽  
pp. 505-508 ◽  
Author(s):  
Željko Jeleč ◽  
Dragan Primorac ◽  
Darko Antičević
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Osteogenesis Imperfecta Type ◽  
Type Iii

Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III)

1986 ◽  
Vol 889 (1) ◽  
pp. 23-34 ◽  
Author(s):  
Jacky Bonaventure ◽  
Lola Cohen-Solal ◽  
Catherine Lasselin ◽  
Jean-Claude Allain ◽  
Pierre Maroteaux
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form ◽  
Osteogenesis Imperfecta Type ◽  
Type Iii

scholarly journals Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

2011 ◽  
Vol 12 (1) ◽  
Author(s):  
Ortrud K Steinlein ◽  
Eric Aichinger ◽  
Holger Trucks ◽  
Thomas Sander
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form

Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus

2017 ◽  
Vol 20 (5) ◽  
pp. 455-459 ◽  
Author(s):  
Laura Tanner ◽  
Paula Vainio ◽  
Minna Sandell ◽  
Jukka Laine
Keyword(s):  
Osteogenesis Imperfecta ◽  
Severe Form

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family

Gene ◽  
2012 ◽  
Vol 502 (2) ◽  
pp. 168-171 ◽  
Author(s):  
Hao Peng ◽  
Yuhui Zhang ◽  
Zhigao Long ◽  
Ding Zhao ◽  
Zhenxin Guo ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Chinese Family ◽  
Type I ◽  
Splicing Mutation ◽  
Col1a1 Gene
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