Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene
Author:
Publisher
Elsevier BV
Subject
Hematology
Reference14 articles.
1. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat. Genet.,1993
2. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions;Naylor;Hum. Mol. Genet.,1993
3. Int22h-related inversions causing hemophilia A: novel insight into their origin and a new more discriminant PCR test for their detection;Bagnall;J. Thromb. Haemost.,2006
4. Factor VIII gene inversions causing severe hemophilia a originate almost exclusively in male germ cells;Rossiter;Hum. Mol. Genet.,1994
5. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study;Antonarakis;Blood,1995
Cited by 3 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. Molecular cytogenetic characterization of fiveF8complex rearrangements: utility for haemophilia A genetic counselling;Haemophilia;2017-05-05
2. Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis;Thrombosis and Haemostasis;2017
3. Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers;Blood Advances;2016-12-14
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