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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2015
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4373282/
https://ncbi.nlm.nih.gov/pubmed/25887804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0231-z
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