Article
Origin of Swedish hemophilia B mutations.
Journal of thrombosis and haemostasis : JTH - 1 Nov 2013
Halldén C, Mårtensson A, Nilsson D, Säll T, Lind-Halldén C, Lidén A C, Ljung R
Abstract excerpt
BACKGROUND: More than 1100 mutations that cause hemophilia B (HB) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations. OBJECTIVES: To describe the mutation spectrum of all HB families in Sweden and investigate if mutations appearing in several families are due to independent recurrent mutations...
Topics
- CpG Islands
- DNA Mutational Analysis
- Factor IX
- Founder Effect
- Gene Deletion
- Genetic Markers
- Genotype
- Haplotypes
- Hemophilia B
- Humans
- Male
- Microsatellite Repeats
- Mutation
- Phenotype
- Polymorphism, Single Nucleotide
- Registries
- Sweden