Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

BACKGROUND: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by gastrointestinal (GI) hamartomatous polyps, mucocutaneous hyperpigmentation, and an increased risk of cancer. Mutations in the serine–threonine kinase 11 gene (SKT11) are the major cause of PJS....

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Tan, Hu, Mei, Libin, Huang, Yanru, Yang, Pu, Li, Haoxian, Peng, Ying, Chen, Chen, Wei, Xianda, Pan, Qian, Liang, Desheng, Wu, Lingqian
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5100203/
https://ncbi.nlm.nih.gov/pubmed/27821076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0339-6
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