Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations

BACKGROUND: Wilson's disease (WND) is a rare autosomal recessive disorder. Here we have evaluated 62 WND cases (58 probands) from the Chinese Han population to expand our knowledge of ATP7B mutations and to more completely characterize WND in China. METHODS: The coding and promoter regions of t...

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Detalles Bibliográficos
Autores principales: Li, Xin-Hua, Lu, Yi, Ling, Yun, Fu, Qing-Chun, Xu, Jie, Zang, Guo-Qing, Zhou, Feng, De-Min, Yu, Han, Yue, Zhang, Dong-Hua, Gong, Qi-Ming, Lu, Zhi-Meng, Kong, Xiao-Fei, Wang, Jian-She, Zhang, Xin-Xin
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025937/
https://www.ncbi.nlm.nih.gov/pubmed/21219664
http://dx.doi.org/10.1186/1471-2350-12-6

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