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

Blood

Volumn 121, Issue 19, 2013, Pages 3918-3924

  Lanikova, Lucie ^a,b   Lorenzo, Felipe ^a   Yang, Chunzhang ^c   Vankayalapati, Hari ^d   Drachtman, Richard ^e   Divoky, Vladimir ^b   Prchal, Josef T ^a  

^a UNIVERSITY OF UTAH   (United States)

^b PALACKÝ UNIVERSITY   (Czech Republic)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d UNIVERSITY OF UTAH   (United States)

^e ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; GLUCOSE TRANSPORTER 1; HEXOKINASE 1; HYPOXIA INDUCIBLE FACTOR 1ALPHA; TRANSCRIPTION FACTOR NF E2; TRANSCRIPTION FACTOR RUNX1; TRANSFERRIN RECEPTOR; VON HIPPEL LINDAU PROTEIN; VHL PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CARCINOMA CELL; CASE REPORT; CONGENITAL DISORDER; CONTROLLED STUDY; ERYTHROID PRECURSOR CELL; EXON; FEMALE; GENE MUTATION; GENE TARGETING; GENETIC TRANSCRIPTION; GRANULOCYTE; HOMOZYGOTE; HUMAN; HYDROGEN BOND; IMMUNOPRECIPITATION; IN VITRO STUDY; KIDNEY CARCINOMA; MOLECULAR DYNAMICS; POLYCYTHEMIA; PRIORITY JOURNAL; PROTEIN BINDING; SIGNAL TRANSDUCTION; UBIQUITINATION; UPREGULATION; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; MUTATION; NEOPLASM; PHYSIOLOGY; PROTEIN SECONDARY STRUCTURE;

ADOLESCENT; EXONS; FEMALE; HOMOZYGOTE; HUMANS; MODELS, MOLECULAR; MUTATION; NEOPLASMS; POLYCYTHEMIA; PROTEIN STRUCTURE, SECONDARY; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

MLCS; MLOWN;

EID: 84880466762     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-11-469296     Document Type: Article

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