The heterozygote advantage of the chuvash polycythemia VHL R200W mutation may be protection against anemia

Haematologica

Volumn 96, Issue 9, 2011, Pages 1371-1374

  Miasnikova, Galina Y ^a   Sergueeva, Adelina I ^b   Nouraie, Mehdi ^c   Niu, Xiaomei ^c   Okhotin, Daniel J ^d   Polyakova, Lydia A ^a   Ganz, Tomas ^e   Prchal, Josef T ^f   Gordeuk, Victor R ^c  

^a Chuvash Republic Clinical Hospital No 1   (Russian Federation)

^b Cheboksary Children's Hospital   (Russian Federation)

^c HOWARD UNIVERSITY   (United States)

^d Russian Research Services   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Anemia; Heterozygosity; Mutation; Protection; VHL R200W

Indexed keywords

VON HIPPEL LINDAU PROTEIN;

ADULT; ALLELE; ANEMIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; GERM LINE; HEMOGLOBIN BLOOD LEVEL; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MALE; POLYCYTHEMIA; RUSSIAN FEDERATION; VHL GENE;

ADULT; AGED; ANEMIA; FEMALE; GENE EXPRESSION REGULATION; HETEROZYGOTE; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1; MALE; MIDDLE AGED; MUTATION; POLYCYTHEMIA; PREVALENCE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 80052367584     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.045609     Document Type: Article

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