Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?)

European Journal of Haematology

Volumn 91, Issue 4, 2013, Pages 361-368

  Bento, Celeste ^a   Almeida, Helena ^a   Maia, Tabita M ^a   Relvas, Luís ^a   Oliveira, Ana C ^a   Rossi, Cédric ^b   Girodon, François ^b   Fernandez Lago, Carlos ^c   Aguado Diaz, Ascension ^d   Fraga, Cristina ^e   Costa, Ricardo M ^f   Araújo, Ana L ^e   Silva, João ^e   Vitória, Helena ^g   Miguel, Natalina ^h   Silveira, Maria Pedro ⁱ   Martin Nuñez, Guillermo ^j   Ribeiro, Maria Letícia ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b DIJON UNIVERSITY HOSPITAL   (France)

^c HOSPITAL JUAN CANALEJO   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

^f Unidade de Oncologia   (Portugal)

^g Centro Hospitalar Tondela Viseu ^*  (Portugal)

^h Centro Hospitalar Trás Montes e Alto Douro   (Portugal)

ⁱ Centro Hospitalar Lisboa Central   (Portugal)

^j HOSPITAL VIRGEN DEL PUERTO   (Spain)

more..

Author keywords

Congenital erythrocytosis; Diagnosis; Molecular etiology

Indexed keywords

ERYTHROPOIETIN RECEPTOR; HEMOGLOBIN VARIANT; JANUS KINASE 2; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE; PROLYL HYDROXYLASE DOMAIN 2; UNCLASSIFIED DRUG; VON HIPPEL LINDAU PROTEIN;

ADULT; AGED; ARTICLE; CONGENITAL ERYTHROCYTOSIS; CONTROLLED STUDY; ERYTHROCYTOSIS; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; PRIORITY JOURNAL;

CONGENITAL ERYTHROCYTOSIS; DIAGNOSIS; MOLECULAR ETIOLOGY;

ADOLESCENT; ADULT; AGED; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HEMOGLOBINS, ABNORMAL; HUMANS; HYPOXIA-INDUCIBLE FACTOR-PROLINE DIOXYGENASES; JANUS KINASE 2; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; OXYGEN; POLYCYTHEMIA; RECEPTORS, ERYTHROPOIETIN;

EID: 84884815245     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/ejh.12170     Document Type: Article

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