The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W)

Mutations of VHL (a negative regulator of hypoxia-inducible factors) have position-dependent distinct cancer phenotypes. Only two known inherited homozygous VHL mutations exist and they cause polycythemia: Chuvash R200W and Croatian H191D. We report a second polycythemic Croatian H191D homozygote di...

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Detalhes bibliográficos
Main Authors: Tomasic, Nikica Ljubas, Piterkova, Lucie, Huff, Chad, Bilic, Ernest, Yoon, Donghoon, Miasnikova, Galina Y., Sergueeva, Adelina I., Niu, Xiaomei, Nekhai, Sergei, Gordeuk, Victor, Prchal, Josef T.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2013
Assuntos:
Original Articles and Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3659987/
https://ncbi.nlm.nih.gov/pubmed/23403324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2012.070508
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