MOSAICISM AND SPORADIC HAEMOPHILIA: IMPLICATIONS FOR CARRIER DETERMINATION
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference11 articles.
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2. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots;Youssoufian;Nature,1986
3. Characterization of the human factor VIII gene;Gitschier;Nature,1984
4. Detection of hemophilia A carriers using mtragenic factor VIIIC DNA polymorphisms;Janco;Blood,1987
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1. Two de novo factor VIII gene mutations in the family of an isolated severe haemophilia A patient;Haemophilia;2011-07-11
2. Inversions of the factor VIII gene in Swedish patients with severe haemophilia A;European Journal of Haematology;2009-04-24
3. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients;Clinical Genetics;2008-04-23
4. Exclusion of mosaicism in Spanish haemophilia A families with inversion of intron 22;Haemophilia;2003-09
5. High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation;Human Mutation;2002-09-24
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