Article
Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis.
Human genetics - 1 Dec 1990
Rosendaal F R, Bröcker-Vriends A H, van Houwelingen J C, Smit C, Varekamp I, van Dijck H, Suurmeijer T P, Vandenbroucke J P, Briët E
Abstract excerpt
A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of carriership of the mother of an isolated patient. An estimate of this prior risk is required for the...
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