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...

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Detalles Bibliográficos
Autores principales: Yang, Chunzhang, Hong, Christopher S, Prchal, Josef T, Balint, Melina T, Pacak, Karel, Zhuang, Zhengping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785578/
https://www.ncbi.nlm.nih.gov/pubmed/27081557
http://dx.doi.org/10.1038/hgv.2015.53

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785578/
https://www.ncbi.nlm.nih.gov/pubmed/27081557
http://dx.doi.org/10.1038/hgv.2015.53

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