The phenotype of polycythemia due to Croatian homozygous VHL (571C}G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C}T:R200W)
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F13%3A33144623" target="_blank" >RIV/61989592:15110/13:33144623 - isvavai.cz</a>
Result on the web
<a href="http://www.haematologica.org/content/98/4/560.long" target="_blank" >http://www.haematologica.org/content/98/4/560.long</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3324/haematol.2012.070508" target="_blank" >10.3324/haematol.2012.070508</a>
Alternative languages
Result language
angličtina
Original language name
The phenotype of polycythemia due to Croatian homozygous VHL (571C}G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C}T:R200W)
Original language description
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 distantly related to the first propositus. Three generations of both families were genotyped for analysis of shared ancestry. Biochemical and molecular tests were performed to better define their phenotypes, with an emphasis on a comparison with Chuvash polycythemia. The VHL H191D mutation did not segregate in the family defined by the known common ancestors of the two subjects, suggesting a high prevalence in Croatians, but haplotype analysis indicated an undocumented common ancestor ?six generations ago as the founder of this mutation. We show that erythropoietin levels in homozygous VHL H191D individuals are higher than in VHL R200W patients of similar ages, and their native erythroid proge
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Haematologica: the hematology journal
ISSN
0390-6078
e-ISSN
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Volume of the periodical
98
Issue of the periodical within the volume
4
Country of publishing house
IT - ITALY
Number of pages
8
Pages from-to
560-567
UT code for WoS article
000319897700022
EID of the result in the Scopus database
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