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Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

BACKGROUND: Germline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish population by screening of 143 Danish pheochromocytoma and paraganglioma pati...

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Detalles Bibliográficos
Autores principales: Bennedbæk, Marc, Rossing, Maria, Rasmussen, Åse K., Gerdes, Anne-Marie, Skytte, Anne-Bine, Jensen, Uffe B., Nielsen, Finn C., Hansen, Thomas v. O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898401/
https://www.ncbi.nlm.nih.gov/pubmed/27279923
http://dx.doi.org/10.1186/s13053-016-0053-6