Somatic mosaicism of EPAS1 mutations in the syndrome of paraganglioma and somatostatinoma associated with polycythemia

We recently described a novel, non-inherited syndrome of tumor-specific mutations of hypoxia-inducible factor 2α, encoded by EPAS1, leading to formation of multiple paragangliomas and somatostatinomas in the setting of congenital polycythemia. Although we had suspected that somatic mosaicism of EPAS...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genome Var
Egile Nagusiak: Yang, Chunzhang, Hong, Christopher S, Prchal, Josef T, Balint, Melina T, Pacak, Karel, Zhuang, Zhengping
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2015
Gaiak:
Data Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785578/
https://ncbi.nlm.nih.gov/pubmed/27081557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.53
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