Reliable and cost-effective approach for diagnosis of heterozygousF8/F9large deletions by quantitative real-time PCR-Reference-Cited by-同舟云学术

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Reliable and cost-effective approach for diagnosis of heterozygousF8/F9large deletions by quantitative real-time PCR

Published:2015-03-10 Issue:3 Volume:21 Page:e247-e251
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Abelleyro M. M.¹,Radic C. P.¹,Tetzlaff T.²,Marchione V.¹³,Fundia A. F.¹,Larripa I. B.¹³,Rossetti L. C.¹,De Brasi C. D.¹³

Affiliation:

1. Instituto de Medicina Experimental (IMEX); CONICET-Academia Nacional de Medicina; Buenos Aires Argentina

2. Instituto de Ciencias; Universidad Nacional de General Sarmiento (UNGS); Buenos Aires Argentina

3. Instituto de Investigaciones Hematológicas Mariano R Castex; Academia Nacional de Medicina; Buenos Aires Argentina

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12656/fullpdf

Reference10 articles.

1. Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects;Rossetti;Haematologica,2007

2. Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B;Radic;Thromb Haemost,2013

3. Genetic risk factors for inhibitors to factors VIII and IX;Oldenburg;Haemophilia,2006

4. Homeologous recombination between AluSx-sequences as a cause of hemophilia;Rossetti;Hum Mutat,2004

5. Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency;Lannoy;Haemophilia,2009

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation;Thrombosis and Haemostasis;2018-02-07

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