Associated Papers
[Familial erythrocytosis type 2 due to VHL germline mutations: a case report and literature review].
Liu NN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Weighted
Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.
Lanikova L et al.
Blood, 2013
HIF pathway mutations and erythrocytosis.
McMullin MF
Expert Review of Hematology, 2010
Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.
Perrotta S et al.
Blood, 2006
Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.
Bento MC et al.
Haematologica, 2005
Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.
Percy MJ et al.
Blood, 2003
Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.
Pastore Y et al.
American Journal of Human Genetics, 2003
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