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Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome

OBJECTIVE: To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma...

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Detalles Bibliográficos
Autores principales: Lendvai, Nikoletta, Tóth, Miklos, Valkusz, Zsuzsanna, Bekő, Gabriella, Szücs, Nikolette, Csajbók, Éva, Igaz, Péter, Kriszt, Balázs, Kovács, Balázs, Rácz, Károly, Patócs, Attila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328831/
https://www.ncbi.nlm.nih.gov/pubmed/22584711
http://dx.doi.org/10.6061/clinics/2012(Sup01)15