A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family

2009 ◽  
Vol 88 (1) ◽  
pp. 87-91 ◽  
Author(s):  
Hong Guo ◽  
Xueqing Xu ◽  
Kai Wang ◽  
Bo Zhang ◽  
Guohong Deng ◽  
...  
Keyword(s):  
Rna Splicing ◽  
Chinese Family ◽  
Splicing Mutation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

scholarly journals A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

2001 ◽  
Vol 68 (6) ◽  
pp. 1398-1407 ◽  
Author(s):  
George E. Tiller ◽  
Vickie L. Hannig ◽  
Damon Dozier ◽  
Laura Carrel ◽  
Karrie C. Trevarthen ◽  
...  
Keyword(s):  
Rna Splicing ◽  
Splicing Mutation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

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

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

Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome

1988 ◽  
Vol 81 (1) ◽  
pp. 61-63 ◽  
Author(s):  
S. Szpiro-Tapia ◽  
A. Sefiani ◽  
M. Guilloud-Bataille ◽  
S. Heuertz ◽  
B. Le Marec ◽  
...  
Keyword(s):  
Genetic Markers ◽  
X Chromosome ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis

2011 ◽  
Vol 18 (4) ◽  
pp. 311 ◽  
Author(s):  
Il Hwan Oh ◽  
June Seok Song ◽  
Dong Hwi Rim ◽  
Jong Wook Choi ◽  
Seunghun Lee ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

scholarly journals A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2

2018 ◽  
Vol 27 (3) ◽  
pp. 193-196 ◽  
Author(s):  
Mami Fukuma ◽  
Masaki Takagi ◽  
Tomoyuki Shimazu ◽  
Hoseki Imamura ◽  
Hiroko Yagi ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Familial Case ◽  
Site Mutation ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda

Two Surgical Cases of Os Odontoideum in Spondyloepiphyseal Dysplasia Tarda.

1995 ◽  
Vol 44 (2) ◽  
pp. 535-540
Author(s):  
Kunihiko Uehara ◽  
Sakae Sato ◽  
Yukio Kinjo ◽  
Tetsuya Yara ◽  
Shintoku Isa ◽  
...  
Keyword(s):  
Os Odontoideum ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Tarda
Sign in / Sign up

Export Citation Format

Share Document