title: Two new mutations in the HIF2A gene associated with erythrocytosis.
authors.forename: Melanie J
authors.initials: MJ
authors.lastname: Percy
authors.forename: Yu Jin
authors.initials: YJ
authors.lastname: Chung
authors.forename: Claire
authors.initials: C
authors.lastname: Harrison
authors.forename: Jane
authors.initials: J
authors.lastname: Mercieca
authors.forename: A Victor
authors.initials: AV
authors.lastname: Hoffbrand
authors.forename: Carla L
authors.initials: CL
authors.lastname: Dinardo
authors.forename: Paulo C J L
authors.initials: PC
authors.lastname: Santos
authors.forename: Guilherme H H
authors.initials: GH
authors.lastname: Fonseca
authors.forename: Sandra F M
authors.initials: SF
authors.lastname: Gualandro
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
authors.forename: Terence R J
authors.initials: TR
authors.lastname: Lappin
authors.forename: Mary Frances
authors.initials: MF
authors.lastname: McMullin
authors.forename: Frank S
authors.initials: FS
authors.lastname: Lee
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D051792:Basic Helix-Loop-Helix Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D017124:Conserved Sequence; D004921:Erythropoietin / Q000502:physiology; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017354:Point Mutation; D011086:Polycythemia / Q000151:congenital* / Q000235:genetics; D011393:Procollagen-Proline Dioxygenase / Q000378:metabolism; D025941:Protein Interaction Mapping; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D015398:Signal Transduction / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000378:metabolism; D000099162:Endothelial PAS Domain-Containing Protein 1
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D004921:Erythropoietin; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases; D011393:Procollagen-Proline Dioxygenase; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D000099162:Endothelial PAS Domain-Containing Protein 1; C490190:EGLN1 protein, human; C497446:VHL protein, human