Erythrocytosis associated with a novel missense mutation in the BPGM gene

Haematologica

Volumn 99, Issue 10, 2014, Pages e201-e204

  Petousi, Nayia ^a   Richard, R ^b,c   Terence, R J ^d   Sally, E ^e   Celeste, M ^f   Cario, Holger ^g   Melanie, J ^e   Peter, J ^a   Peter, A ^h   McMullin, Mary Frances ^d   Donnelly, Peter ⁱ   Bell, John ^j   Bentley, David ^k   McVean, Gil ⁱ   Ratcliffe, Peter ⁱ   Taylor, Jenny ^b,i   Wilkie, Andrew ^b,l   Donelly, Peter ⁱ   Broxholme, John ⁱ   Buck, David ⁱ   Cazier, Jean Baptiste ⁱ   Cornall, Richard ⁱ   Gregory, Lorna ⁱ   Knight, Julian ⁱ   Lunter, Gerton ⁱ   Tomlinson, Ian ^b,i   Allan, Christopher ⁱ   Attar, Moustafa ⁱ   Green, Angie ⁱ   Humphray, Sean ^k   Kingsbury, Zoya ^k   Lamble, Sarah ⁱ   Lonie, Lorne ⁱ   Pagnamenta, Alistair ⁱ   Piazza, Paolo ⁱ   Copley, Richard ⁱ   Fiddy, Simon ⁱ   Grocock, Russell ^k   Hatton, Edouard ⁱ   Holmes, Chris ⁱ   Hughes, Linda ⁱ   Humburg, Peter ⁱ   Kanapin, Alexander ⁱ   Lise, Stefano ⁱ   Martin, Hilary ⁱ   McCarthy, Davis ⁱ   Rimmer, Andy ⁱ   Sahgal, Natasha ⁱ   Wright, Ben ⁱ   Yau, Chris ^m   Murray, Lisa ^k   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

^c SORBONNE UNIVERSITÉ   (France)

^d QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^e BELFAST CITY HOSPITAL   (United Kingdom)

^f CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^g UNIVERSITY HOSPITAL ULM   (Germany)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

^j ILLUMINA INC   (United States)

^k Illumina Cambridge Ltd   (United Kingdom)

^l JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^m IMPERIAL COLLEGE LONDON   (United Kingdom)

more..

Author keywords

BGPM mutation associated erythrocytosis

Indexed keywords

ACETYLSALICYLIC ACID; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BISPHOSPHOGLYCERATE MUTASE; CARBOXYHEMOGLOBIN; ERYTHROPOIETIN; HEMOGLOBIN; HYPOXIA INDUCIBLE FACTOR 2ALPHA; HYPOXIA INDUCIBLE FACTOR PROLINE DIOXYGENASE; VON HIPPEL LINDAU PROTEIN;

ADULT; ARTERIAL GAS; CASE REPORT; CRYSTAL STRUCTURE; DNA SEQUENCE; ELECTROPHORESIS; ERYTHROCYTE COUNT; ERYTHROCYTOSIS; FATIGUE; FOLLOW UP; HEMATOCRIT; HUMAN; LETTER; LOW DRUG DOSE; MALE; MEAN CORPUSCULAR VOLUME; MISSENSE MUTATION; CHEMISTRY; GENETICS; GENOTYPE; POLYCYTHEMIA;

BISPHOSPHOGLYCERATE MUTASE; GENOTYPE; HUMANS; MUTATION, MISSENSE; POLYCYTHEMIA;

EID: 84907567830     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2014.109306     Document Type: Letter

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