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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Cancer
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5850917/
https://ncbi.nlm.nih.gov/pubmed/29534684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12885-018-4127-x
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados