A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita

2014 ◽  
Vol 81 (1) ◽  
pp. 86-89 ◽  
Author(s):  
Shiyin Li ◽  
Hao Zhou ◽  
Haitao Qin ◽  
Hong Guo ◽  
Yun Bai
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

scholarly journals Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0127529 ◽  
Author(s):  
Xiangjun Huang ◽  
Xiong Deng ◽  
Hongbo Xu ◽  
Song Wu ◽  
Lamei Yuan ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

scholarly journals A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Tangjun Zhou ◽  
Xiao Yang ◽  
Zhiqian Chen ◽  
Yifan Zhou ◽  
Xiankun Cao ◽  
...  
Keyword(s):  
Chinese Family ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Col2a1 Mutation

scholarly journals Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family

2018 ◽  
Vol 9 (5) ◽  
pp. 241-246 ◽  
Author(s):  
Eirini Dikaiakou ◽  
Elpis A. Vlachopapadopoulou ◽  
Emanouil Manolakos ◽  
Panagiotis Samelis ◽  
Rodanthi Margariti ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Dominant Mutation ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita

2007 ◽  
Vol 382 (1-2) ◽  
pp. 148-150 ◽  
Author(s):  
Xinyi Xia ◽  
Yingxia Cui ◽  
Yufeng Huang ◽  
Lianjun Pan ◽  
Yongming Wu ◽  
...  
Keyword(s):  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

scholarly journals A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis

2003 ◽  
Vol 18 (9) ◽  
pp. 1612-1621 ◽  
Author(s):  
Leah Rae Donahue ◽  
BO Chang ◽  
Subburaman Mohan ◽  
Nao Miyakoshi ◽  
Jon E Wergedal ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Missense Mutation ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita
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