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

British Journal of Haematology

Volumn 162, Issue 6, 2013, Pages 851-853

  Lorenzo, Felipe R ^a   Yang, Chunzhang ^b   Lanikova, Lucie ^a,c   Butros, Linda ^d   Zhuang, Zhengping ^b   Prchal, Josef T ^a  

^a UNIVERSITY OF UTAH   (United States)

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

^c PALACKÝ UNIVERSITY   (Czech Republic)

^d UNIVERSITY OF NEW MEXICO   (United States)

Author keywords

Erythrocytosis; Genetics; Molecular haematology; Mutations; Polycythaemia

Indexed keywords

ERYTHROPOIETIN; GLUCOSE TRANSPORTER 1; HEXOKINASE 1; HYPOXIA INDUCIBLE FACTOR 1; HYPOXIA INDUCIBLE FACTOR 1ALPHA; VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; CASE REPORT; CHILD; ENZYME ACTIVITY; EXON; FEMALE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HK1 GENE; HOMOZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYCYTHEMIA; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN STABILITY; SCHOOL CHILD; SIGNAL TRANSDUCTION; SLC2A1 GENE; TFRC GENE; VHL GENE;

ERYTHROCYTOSIS; GENETICS; MOLECULAR HAEMATOLOGY; MUTATIONS; POLYCYTHAEMIA;

ADOLESCENT; CHILD; FEMALE; HETEROZYGOTE; HUMANS; MALE; POLYCYTHEMIA; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 84883262922     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12431     Document Type: Letter

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