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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 method (95% confidence interval 3.8 to 62.5). In order to avoid the possible influence of germline mosaicism, an additional...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 1682494
DOI: 10.1136/jmg.28.10.672
PMCID: PMC1017053

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Source receipt: pubmed, retrieved 7 Sept 2026.

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