Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma | Zendy

Jenny Welander | Zendy; Adam Andreasson | Zendy; C. Christofer Juhlin | Zendy; Roger W. Wiseman | Zendy; Martin Bäckdahl | Zendy; Anders Höög | Zendy; Catharina Larsson | Zendy; Oliver Gimm | Zendy; Peter Söderkvist | Zendy

Open Access

Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

Author(s) -

Jenny Welander,

Adam Andreasson,

C. Christofer Juhlin,

Roger W. Wiseman,

Martin Bäckdahl,

Anders Höög,

Catharina Larsson,

Oliver Gimm,

Peter Söderkvist

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2013-4375

Subject(s) - sdhb , sdha , sdhd , paraganglioma , germline mutation , pheochromocytoma , germline , sanger sequencing , genetics , biology , mutation , cancer research , gene , medicine , pathology , endocrinology , gene expression

Pheochromocytomas and paragangliomas have a highly diverse genetic background, with a third of the cases carrying a germline mutation in 1 of 14 identified genes.

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