Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Dec 14;41(12):1047-1049.
doi: 10.3760/cma.j.issn.0253-2727.2020.12.015.

[A case of familial erythrocytosis type 2 caused by VHL gene mutation]

[Article in Chinese]
W Zhang  1 , S Bao  1 , L J Jiang  2 , Y P Ma  1
Affiliations
Case Reports

[A case of familial erythrocytosis type 2 caused by VHL gene mutation]

[Article in Chinese]
W Zhang et al. Zhonghua Xue Ye Xue Za Zhi. .
No abstract available

PubMed Disclaimer

Figures

图1
图1. 红细胞增多症2型患者及其父母VHL基因测序图
A：患者VHL 3p25.3 NM_000551.3 Exon3 c.598C>T p.(Arg200Trp)纯合突变；B：患者母亲VHL 3p25.3 NM_000551.3 Exon3 c.598C>T p.(Arg200Trp)杂合突变；C：患者父亲VHL 3p25.3 NM_000551.3 Exon3 c.598C>T p.(Arg200Trp)杂合突变
See this image and copyright information in PMC

References

    1. Percy MJ, Furlow PW, Beer PA, et al. A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove[J] Blood. 2007;110(6):2193–2196. doi: 10.1182/blood-2007-04-084434. - DOI - PMC - PubMed
    1. Percy MJ, Furlow PW, Lucas GS, et al. A gain-of-function mutation in the HIF2A gene in familial erythrocytosis[J] N Engl J Med. 2008;358(2):162–168. doi: 10.1056/NEJMoa073123. - DOI - PMC - PubMed
    1. Arcasoy MO, Karayal AF, Segal HM, et al. A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis[J] Blood. 2002;99(8):3066–3069. doi: 10.1182/blood.v99.8.3066. - DOI - PubMed
    1. Bento C, Percy MJ, Gardie B, et al. Genetic basis of congenital erythrocytosis: mutation update and online databases[J] Hum Mutat. 2014;35(1):15–26. doi: 10.1002/humu.22448. - DOI - PubMed
    1. Vočanec D, Prijatelj T, Debeljak N, et al. Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis[J] Int J Lab Hematol. 2019;41(2):162–167. doi: 10.1111/ijlh.12949. - DOI - PMC - PubMed

Publication types

Substances

Supplementary concepts