Article
Mutation analysis of Swedish haemophilia B families - high frequency of unique mutations.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2016
Mårtensson A, Letelier A, Halldén C, Ljung R
Abstract excerpt
INTRODUCTION: Haemophilia B is caused by a heterogeneous spectrum of mutations. Mutation characterization is important in genetic counselling, prenatal diagnosis and to predict risk of inhibitor development. AIMS: To study the mutation spectrum, frequency of unique recurrent mutations, genotype-phenotype association and inhibitor development in a population-based study of the complete Swedish haemophilia B...
Topics
- Antibodies, Neutralizing
- Codon, Nonsense
- DNA
- DNA Mutational Analysis
- Factor IX
- Genotype
- Haplotypes
- Hemophilia B
- Humans
- Mutation, Missense
- Polymorphism, Single Nucleotide
- Promoter Regions, Genetic
- RNA Splice Sites
- Sequence Deletion
- Severity of Illness Index
- Sweden