Clinical utility gene card for: Hereditary thrombocythemia-Reference-Cited by-同舟云学术

Clinical utility gene card for: Hereditary thrombocythemia

Published:2013-06-05 Issue:2 Volume:22 Page:293-293
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hussein Kais,Percy Melanie,McMullin Mary Frances,Schwarz Jiří,Schnittger Susanne,Porret Naomi,Martinez-Aviles Luz Maria,Paricio Beatriz Bellosillo,Giraudier Stéphane,Skoda Radek,Lippert Eric,Hermouet Sylvie,Cario Holger

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013117.pdf

Reference26 articles.

1. Schlemper RJ, van der Maas AP, Eikenboom JC : Familial essential thrombocythemia: clinical characteristics of 11 cases in one family. Ann Hematol 1994; 68: 153–158.

2. Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC : An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet 1998; 18: 49–52.

3. Liu K, Kralovics R, Rudzki Z et al: A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family. Haematologica 2008; 93: 706–714.

4. Kondo T, Okabe M, Sanada M et al: Familial essential thrombocythemia associated with one-base deletion in the 5′-untranslated region of the thrombopoietin gene. Blood 1998; 92: 1091–1096.

5. Graziano C, Carone S, Panza E : Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. Blood 2009; 114: 1655–1657.

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