Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

doi:10.1136/jmg.28.10.672

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Article

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Journal of medical genetics - 1 Oct 1991

Bröcker-Vriends A H, Rosendaal F R, van Houwelingen J C, Bakker E, van Ommen G J, van de Kamp J J, Briët E

Abstract excerpt

Coagulation and RFLP data from 41 families with an isolated haemophilia A patient were used to estimate the sex ratio of mutation frequencies (nu/mu). Based on the results of coagulation assays in all the female relatives investigated, nu/mu was estimated to be 12.1 by the maximum likelihood meth...

Topics

Blood Coagulation Tests
Female
Genetic Carrier Screening
Hemophilia A
Humans
Male
Mutation
Polymorphism, Restriction Fragment Length
Sex Ratio
X Chromosome

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