Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly


Autoria(s): Li, Hui; Wang, Cheng-Ye; Wang, Jia-Xin; Wu, Gui-Sheng; Yu, Ping; Yan, Xiao-Yi; Chen, Yong-Gang; Zhao, Lu-Hang; Zhang, Ya-Ping
Data(s)

2009

Resumo

Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping

We are grateful to the family members for participating in this research. We thank Professor Nelson Leung-Sang Tang and Dr Huai-Rong Luo for their help in preparing the manuscript. This work was supported by the Key State Research Program of China (2006CB

Identificador

http://159.226.149.42:8088/handle/152453/4329

http://www.irgrid.ac.cn/handle/1471x/47462

Direitos

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

Fonte

Li, Hui; Wang, Cheng-Ye; Wang, Jia-Xin; Wu, Gui-Sheng; Yu, Ping; Yan, Xiao-Yi; Chen, Yong-Gang; Zhao, Lu-Hang; Zhang, Ya-Ping.Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly,17,604-610,preaxial polydactyly; chromosome 7q36; sonic hedgehog; ZRS; conserved noncoding sequence(SCI-E ):We are grateful to the family members for participating in this research. We thank Professor Nelson Leung-Sang Tang and Dr Huai-Rong Luo for their help in preparing the manuscript. This work was supported by the Key State Research Program of China (2006CB

Palavras-Chave #Biochemistry & Molecular Biology; Genetics & Heredity #preaxial polydactyly #chromosome 7q36 #sonic hedgehog #ZRS #conserved noncoding sequence
Tipo

期刊论文