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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Ferrata Storti Foundation 2013
Konular:
Original Articles and Brief Reports
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller