Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions-Reference-Cited by-同舟云学术

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

Published:2008-05-14 Issue:8 Volume:16 Page:1014-1018
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Béri-Dexheimer Mylène,Latger-Cannard Véronique,Philippe Christophe,Bonnet Céline,Chambon Pascal,Roth Virginie,Grégoire Marie-José,Bordigoni Pierre,Lecompte Thomas,Leheup Bruno,Jonveaux Philippe

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg200889.pdf

Reference18 articles.

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2. Song WJ, Sullivan MG, Legare RD et al: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166–175.

3. Buijs A, Poddighe P, van Wijk R et al: A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001; 98: 2856–2858.

4. Michaud J, Wu F, Osato M et al: In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002; 99: 1364–1372.

5. Walker LC, Stevens J, Campbell H et al: A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Br J Haematol 2002; 117: 878–881.

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