A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

Bone ◽  
2012 ◽  
Vol 50 (1) ◽  
pp. 343-349 ◽  
Author(s):  
Giacomo Venturi ◽  
Elena Monti ◽  
Luca Dalle Carbonare ◽  
Massimiliano Corradi ◽  
Alberto Gandini ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Splicing Mutation ◽  
Mineralization Defect

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

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

scholarly journals Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect

2002 ◽  
Vol 17 (1) ◽  
pp. 30-38 ◽  
Author(s):  
Francis H. Glorieux ◽  
Leanne M. Ward ◽  
Frank Rauch ◽  
Ljiljana Lalic ◽  
Peter J. Roughley ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Disease ◽  
Osteogenesis Imperfecta Type ◽  
Mineralization Defect ◽  
Brittle Bone Disease

scholarly journals A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta

2009 ◽  
Vol 8 (1) ◽  
pp. 173-178 ◽  
Author(s):  
C. Barbirato ◽  
M.G. Almeida ◽  
M. Milanez ◽  
V. Sipolatti ◽  
M.R.G.O. Reboucas ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Splicing Mutation ◽  
Col1a1 Gene ◽  
Gene Splicing ◽  
Brazilian Patient

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family

2008 ◽  
Vol 398 (1-2) ◽  
pp. 148-151 ◽  
Author(s):  
Xin-Yi Xia ◽  
Ying-Xia Cui ◽  
Yu-Feng Huang ◽  
Lian-Jun Pan ◽  
Bin Yang ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Rna Splicing ◽  
Chinese Family ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Splicing Mutation ◽  
Col1a1 Gene ◽  
Osteogenesis Imperfecta Type I
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