A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

New England Journal of Medicine

Volumn 358, Issue 2, 2008, Pages 162-168

  Percy, Melanie J ^a   Furlow, Paul W ^c   Lucas, Guy S ^d   Li, Xiping ^c   Lappin, Terence R J ^b   McMullin, Mary Frances ^b   Lee, Frank S ^c,d  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ERYTHROPOIETIN; HYPOXIA INDUCIBLE FACTOR 2ALPHA; OXYGENASE; HEMOGLOBIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA;

ADULT; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CLINICAL FEATURE; ENZYME ASSAY; ERYTHROCYTOSIS; FAMILIAL DISEASE; FAMILY HISTORY; GENE FUNCTION; GENE MUTATION; GENOTYPE; HUMAN; HYDROXYLATION; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN STABILITY; REAL TIME POLYMERASE CHAIN REACTION; BIOSYNTHESIS; ERYTHROPOIESIS; FEMALE; GENETICS; HEMATOCRIT; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; POLYCYTHEMIA; POLYMERASE CHAIN REACTION;

ADULT; DNA MUTATIONAL ANALYSIS; ERYTHROPOIESIS; ERYTHROPOIETIN; FEMALE; GENOTYPE; HEMATOCRIT; HEMOGLOBINS; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; MALE; PEDIGREE; POINT MUTATION; POLYCYTHEMIA; POLYMERASE CHAIN REACTION;

EID: 38049173572     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa073123     Document Type: Article

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