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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Autores principales:	Nikica Ljubas Tomasic, Lucie Piterkova, Chad Huff, Ernest Bilic, Donghoon Yoon, Galina Y. Miasnikova, Adelina I. Sergueeva, Xiaomei Niu, Sergei Nekhai, Victor Gordeuk, Josef T. Prchal
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Ferrata Storti Foundation 2013-04-01
Colección:	Haematologica
Acceso en línea:	https://haematologica.org/article/view/6624
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