Long-term follow-up and novel splice donor mutation in MEN1 in a Chinese family

Heterozygous germline mutation of the MEN1 tumor suppressor gene is responsible for multiple endocrine neoplasia type 1. Parathyroid and thoracic neuroendocrine tumor specimens and DNA from two Han Chinese MEN1 family patients were analyzed using whole exome and Sanger sequencing. The proband (II-3)...

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Detalles Bibliográficos
Autores principales: Li, Minghao, Liu, Qianqian, Liu, Peihua, Yi, Xiaoping, Guan, Xiao, Yu, Anze, Liu, Longfei, Zhu, Feizhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2017
Materias:
Research Paper: Chromosome
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788583/
https://www.ncbi.nlm.nih.gov/pubmed/29416715
http://dx.doi.org/10.18632/oncotarget.23100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788583/
https://www.ncbi.nlm.nih.gov/pubmed/29416715
http://dx.doi.org/10.18632/oncotarget.23100

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