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A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2(V617F) positive polycythemia vera: a case report

BACKGROUND: The role of the hypoxia signaling pathway in the pathogenesis of pheochromocytoma/paraganglioma (PPGL)-polycythemia syndrome has been elucidated. Novel somatic mutations in hypoxia-inducible factor type 2A (HIF2A) and germline mutations in prolyl hydroxylase type 1 and type 2 (PHD1 and P...

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Detalles Bibliográficos
Autores principales:	Pang, Ying, Gupta, Garima, Yang, Chunzhang, Wang, Herui, Huynh, Thanh-Truc, Abdullaev, Ziedulla, Pack, Svetlana D., Percy, Melanie J., Lappin, Terence R. J., Zhuang, Zhengping, Pacak, Karel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850917/ https://www.ncbi.nlm.nih.gov/pubmed/29534684 http://dx.doi.org/10.1186/s12885-018-4127-x

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