Mutation analysis of Swedish haemophilia B families: high frequency of unique mutations

Keyphrases

• Mutation Analysis 100%
• Hemophilia B 100%
• Unique mutation 100%
• Mutation Spectrum 33%
• Single nucleotide Variant 33%
• Mutation Characterization 33%
• Inhibitor Development 33%
• AIMS™ 16%
• Population-based Study 16%
• Microsatellites 16%
• Exon 16%
• Single Base 16%
• Gene Deletion 16%
• Severe Haemophilia A 16%
• Missense 16%
• Nonsense 16%
• Large Deletion 16%
• Base-pair Substitution 16%
• Acceptor Splice Site 16%
• Heterogeneous Spectrum 16%
• Recurrent mutation 16%
• Novel mutation 16%
• Spectral Frequency 16%
• Single Patient 16%
• Genotype-phenotype Association 16%
• Genetic Counseling 16%
• Null mutation 16%
• Prenatal Diagnosis 16%
• Small Deletion 16%
• CpG Sites 16%
• Splice Site 16%
• DNA Diagnostics 16%

Biochemistry, Genetics and Molecular Biology

• Haemophilia B 100%
• Genotyping 33%
• Single-Nucleotide Polymorphism 16%
• Promoter Region 16%
• Exon 16%
• Gene Deletion 16%
• Missense 16%
• CpG Site 16%
• Genetic Counseling 16%
• Microsatellite 16%