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

CONTEXT: 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. OBJECTIVE: This study aimed to evaluate next-generation sequencing for more efficient genetic testing of pheochromocytoma and pa...

詳細記述

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書誌詳細
出版年:J Clin Endocrinol Metab
主要な著者: Welander, Jenny, Andreasson, Adam, Juhlin, C. Christofer, Wiseman, Roger W., Bäckdahl, Martin, Höög, Anders, Larsson, Catharina, Gimm, Oliver, Söderkvist, Peter
フォーマット: Artigo
言語:Inglês
出版事項: Endocrine Society 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393486/
https://ncbi.nlm.nih.gov/pubmed/24694336
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-4375
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