Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22
Author:
Publisher
Wiley
Subject
Genetics(clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2516.2003.00813.x/fullpdf
Reference12 articles.
1. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis;Peak;Blood Coag Fibrinolysis,1993
2. Germline mosaicism;Zlotogora;Human Genet,1998
3. Mosaicism and isolated haemophilia: implications for carrier detection;Gitschier;Lancet,1989
4. Prenatal diagnosis of hemophilia involving grandpaternal mosaicism;Lebo;Am J Med Genet,1993
5. Possible misdiagnosis using the XbaI polymorphism for prenatal diagnosis of haemophilia A;Van de Water;Br J Haemat,1994
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2. General concepts on hemophilia A and on women carrying the disease;Blood Coagulation & Fibrinolysis;2020-12
3. Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR;Research and Practice in Thrombosis and Haemostasis;2020-09-07
4. Spectrum and origin of mutations in sporadic cases of haemophilia A in China;Haemophilia;2018-01-30
5. Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China;Genetics and Molecular Research;2015
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