Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment

A family with germline tandem V804M/Y806C mutations in the RET proto-oncogene was reported. The in vitro study results showing that these mutations were on the same allele and that RET with these mutations had a moderate transforming activity were confirmed by the clinical features of the offspring...

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Detalhes bibliográficos
Publicado no:Eur Thyroid J
Main Authors: Kihara, Minoru, Miyauchi, Akira, Yoshida, Hiroshi, Yamada, Osamu, Masuoka, Hiroo, Yabuta, Tomonori, Higashiyama, Takuya, Fukushima, Mitsuhiro, Ito, Yasuhiro, Kobayashi, Kaoru, Miya, Akihiro
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
Assuntos:
Clinical Thyroidology / Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4311302/
https://ncbi.nlm.nih.gov/pubmed/25759805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000369134
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