Article
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden.
Human genetics - 1 May 1992
Montandon A J, Green P M, Bentley D R, Ljung R, Kling S, Nilsson I M, Giannelli F
Abstract excerpt
Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate both the overall and sex-specific mutation rates for haemophilia B by detecting the gene defect of the families...
Topics
- Factor IX
- Female
- Hemophilia B
- Heterozygote
- Humans
- Male
- Mathematics
- Mutation
- Sex Factors
- Sweden