A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

Journal of Molecular Medicine

Volumn 91, Issue 4, 2013, Pages 507-512

  Lorenzo, Felipe R ^a   Yang, Chunzhang ^b   Ng Tang Fui, Mark ^c   Vankayalapati, Hariprasad ^d   Zhuang, Zhengping ^b   Huynh, Thanh ^e   Grossmann, Mathis ^c   Pacak, Karel ^e   Prchal, Josef T ^a  

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

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

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF UTAH   (United States)

^e EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Familial erythrocytosis; HIF2A; Paraganglioma

Indexed keywords

EPAS1 PROTEIN; HIF2A PROTEIN; MEMBRANE PROTEIN; NORADRENALIN; TUMOR PROMOTER; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CANCER SURGERY; CASE REPORT; CONGENITAL POLYCYTHEMIA; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GERMLINE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HYPERTENSION; IMMUNOPRECIPITATION; MALE; MOLECULAR DYNAMICS; PARAGANGLIOMA; PHLEBOTOMY; POLYCYTHEMIA; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN STABILITY; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION; SCREENING TEST; SEQUENCE ALIGNMENT; SOMATIC MUTATION; UPREGULATION;

AGED, 80 AND OVER; AMINO ACID SEQUENCE; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PARAGANGLIOMA; POLYCYTHEMIA; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT;

EID: 84879606718     PISSN: 09462716     EISSN: 14321440     Source Type: Journal    
DOI: 10.1007/s00109-012-0967-z     Document Type: Article

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