Journal article icon

Journal article

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Abstract:

Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga River region. We previously mapped the locus associated with Chuvash polycythemia to chromosome 3p25. The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia. The pro...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1038/ng1019

Authors


Expand authors...
Journal:
Nature genetics
Volume:
32
Issue:
4
Pages:
614-621
Publication date:
2002-12-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:78383de5-2ae3-4366-affc-056bdbfc9f5f
Source identifiers:
94923
Local pid:
pubs:94923

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP