Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cassandra C Taber"'
Publikováno v:
eLife, Vol 11 (2022)
von Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that causes a predisposition to renal clear-cell carcinoma, hemangioblastoma, pheochromocytoma, and autosomal-recessive familial polycythemia. pVHL is the substrate conferring subun
Externí odkaz:
https://doaj.org/article/f9f497551509475db5e06419e2dabacf
Autor:
Fraser G. Ferens, Cassandra C. Taber, Sarah Stuart, Mia Hubert, Daniel Tarade, Jeffrey E. Lee, Michael Ohh
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-14 (2024)
Abstract Pacak-Zhuang syndrome is caused by mutations in the EPAS1 gene, which encodes for one of the three hypoxia-inducible factor alpha (HIFα) paralogs HIF2α and is associated with defined but varied phenotypic presentations including neuroendoc
Externí odkaz:
https://doaj.org/article/ecd3feb7584042e8b24042291be7574e