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The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies
BACKGROUND: Hereditary medullary thyroid carcinoma (MTC) is caused by germ-line gain of function mutations in the RET proto-oncogene, and a phenotypic variability among carriers of the same mutation has been reported. We recently observed this phenomenon in a large familial MTC (FMTC) family carryin...
Autores principales: | Colombo, Carla, Minna, Emanuela, Rizzetti, Maria Grazia, Romeo, Paola, Lecis, Daniele, Persani, Luca, Mondellini, Piera, Pierotti, Marco A, Greco, Angela, Fugazzola, Laura, Borrello, Maria Grazia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373282/ https://www.ncbi.nlm.nih.gov/pubmed/25887804 http://dx.doi.org/10.1186/s13023-015-0231-z |
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