(Q37138199)

18 August 2017

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia (English)

1 reference

18 August 2017

0 references

1 reference

Felipe R Lorenzo

1

1 reference

18 August 2017

Chunzhang Yang

2

1 reference

18 August 2017

Lucie Lanikova

3

1 reference

18 August 2017

Linda Butros

4

1 reference

18 August 2017

Zhengping Zhuang

5

1 reference

18 August 2017

Josef T Prchal

6

1 reference

18 August 2017

language of work or name

English

0 references

publication date

17 June 2013

1 reference

British Journal of Haematology

18 August 2017

1 reference

18 August 2017

162

1 reference

18 August 2017

6

1 reference

18 August 2017

851-853

1 reference

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

T-cell acute leukemia 1 (TAL1) regulation of erythropoietin receptor and association with excessive erythrocytosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

Congenital polycythemias/erythrocytoses.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

PHD2 mutation and congenital erythrocytosis with paraganglioma.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

Endemic polycythemia in Russia: mutation in the VHL gene.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3759558

3 September 2018

Identifiers

DOI

10.1111/BJH.12431

1 reference

18 August 2017

1 reference

18 August 2017

1 reference