Prevalence of the factor 8 gene intron 1 inversion in Chinese haemophiliacs and its application to carrier detection and prenatal diagnosis in haemophilia A families
Author:
Publisher
Wiley
Subject
Genetics(clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2010.02444.x/fullpdf
Reference5 articles.
1. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors organization haemophilia genetics laboratory network;Keeney;Haemophilia,2005
2. Two chimeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia;Brinke;Hum Mol Genet,1996
3. Factor VIII intron-1 inversion: frequency and inhibitor prevalence;Schroder;J Thromb Haemost,2006
4. Inhibitors in haemophilia: pathophysiology;Saint-Remy;Haemophilia,2004
5. The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A;Wang;Haemophilia,2010
Cited by 5 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. Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers;American Journal of Medical Genetics Part A;2024-05-15
2. An aberrant F8 intron 1 inversion with concomitant large duplication and deletion in a Chinese severe hemophilia A patient;Hematology;2020-12-31
3. Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China;Genetics and Molecular Research;2015
4. Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene;Thrombosis and Haemostasis;2014
5. Characterisation and validation of a novel panel of the six short tandem repeats for genetic counselling in Chinese haemophilia A pedigrees;Haemophilia;2012-01-26
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