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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]
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

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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

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References

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