Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Haematologica

Volumn 101, Issue 11, 2016, Pages 1306-1318

  Camps, Carme ^a,b   Petousi, Nayia ^c   Bento, Celeste ^d   Cario, Holger ^e   Copley, Richard R ^a,b   McMullin, Mary Frances ^f   Van Wijk, Richard ^g   Ratcliffe, Peter J ^c   Robbins, Peter A ^h   Taylor, Jenny C ^a,b  

^a National Institute for Health Research ^*  (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^e UNIVERSITY HOSPITAL ULM   (Germany)

^f QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^h UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BISPHOSPHOGLYCERATE MUTASE; EPOTHILONE DERIVATIVE; HEMOGLOBIN ALPHA CHAIN; HEMOGLOBIN BETA CHAIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; HYPOXIA INDUCIBLE FACTOR 3ALPHA; JANUS KINASE 2; VON HIPPEL LINDAU PROTEIN; ZINC FINGER PROTEIN;

ARTICLE; BIOINFORMATICS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA EXTRACTION; ERYTHROCYTOSIS; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INDEL MUTATION; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; OXYGEN SENSING; SEQUENCE ANALYSIS; DNA SEQUENCE; GENETIC VARIATION; GENETICS; MOLECULAR DIAGNOSIS; MUTATION; POLYCYTHEMIA; PROCEDURES; STANDARDS;

GENETIC VARIATION; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; POLYCYTHEMIA; SEQUENCE ANALYSIS, DNA;

EID: 84994579960     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2016.144063     Document Type: Article

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