Erythropoietin receptor mutation-a rush of blood to the head?

被引：1

作者：

Holbro, Andreas ^{[1
,2
]}

Skoda, Radek ^{[3
]}

Lundberg, Pontus ^{[3
]}

Passweg, Jakob ^{[1
]}

Buser, Andreas ^{[1
,2
]}

Lehmann, Thomas ^{[3
,4
]}

机构：

[1] Univ Basel Hosp, Dept Hematol, CH-4031 Basel, Switzerland

[2] Swiss Red Cross, Ctr Blood Transfus, Basel, Switzerland

[3] Univ Basel Hosp, Dept Biomed, Expt Hematol, CH-4031 Basel, Switzerland

[4] Ctr Lab Med, Dept Hematol, CH-9001 St Gallen, Switzerland

来源：

ANNALS OF HEMATOLOGY | 2015年 / 94卷 / 07期

关键词：

CONGENITAL ERYTHROCYTOSIS;

D O I：

10.1007/s00277-015-2346-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1229 / 1231

页数：3

共 6 条

[1] Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases [J].

Bento, Celeste ;

Percy, Melanie J. ;

Gardie, Betty ;

Magalhaes Maia, Tabita ;

van Wijk, Richard ;

Perrotta, Silverio ;

Della Ragione, Fulvio ;

Almeida, Helena ;

Rossi, Cedric ;

Girodon, Francois ;

Astrom, Maria ;

Neumann, Drorit ;

Schnittger, Susanne ;

Landin, Britta ;

Minkov, Milen ;

Randi, Maria Luigia ;

Richard, Stephane ;

Casadevall, Nicole ;

Vainchenker, William ;

Rives, Susana ;

Hermouet, Sylvie ;

Ribeiro, M. Leticia ;

McMullin, Mary Frances ;

Cario, Holger .

HUMAN MUTATION, 2014, 35 (01) :15-26

[2] 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)?) [J].

Bento, Celeste ;

Almeida, Helena ;

Maia, Tabita M. ;

Relvas, Luis ;

Oliveira, Ana C. ;

Rossi, Cedric ;

Girodon, Francois ;

Fernandez-Lago, Carlos ;

Aguado-Diaz, Ascension ;

Fraga, Cristina ;

Costa, Ricardo M. ;

Araujo, Ana L. ;

Silva, Joao ;

Vitoria, Helena ;

Miguel, Natalina ;

Silveira, Maria Pedro ;

Martin-Nunez, Guillermo ;

Ribeiro, Maria Leticia .

EUROPEAN JOURNAL OF HAEMATOLOGY, 2013, 91 (04) :361-368

[3] TRUNCATED ERYTHROPOIETIN RECEPTOR CAUSES DOMINANTLY INHERITED BENIGN HUMAN ERYTHROCYTOSIS [J].

DELACHAPELLE, A ;

TRASKELIN, AL ;

JUVONEN, E .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (10) :4495-4499

[4]

Gordeuk VR, 2005, HAEMATOLOGICA, V90, P109

[5]

Mossuz P, 2004, HAEMATOLOGICA, V89, P1194

[6] The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes [J].

Vardiman, James W. ;

Thiele, Juergen ;

Arber, Daniel A. ;

Brunning, Richard D. ;

Borowitz, Michael J. ;

Porwit, Anna ;

Harris, Nancy Lee ;

Le Beau, Michelle M. ;

Hellstrom-Lindberg, Eva ;

Tefferi, Ayalew ;

Bloomfield, Clara D. .

BLOOD, 2009, 114 (05) :937-951

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