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PMID: 6411604 Published · ppublish English Comparative Study Journal Article

A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia A.

Human genetics ·Vol. 64 ·No. 2 ·1983-00-00 ·Pages 156-9

Winter RM, Tuddenham EG, Goldman E, Matthews KB

Abstract

Carrier detection tests were carried out on 21 mothers of isolated cases of severe Haemophilia A, according to WHO recommendations. A maximum likelihood estimate of the male to female mutation ratio of 9.6 (95% confidence limits 2.2-41.5) was obtained.

MeSH Terms
Factor VIII/analysis Female Genetic Carrier Screening Hemophilia A/blood,genetics Humans Male Mutation Probability Sex Ratio
Chemicals
Factor VIII
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Winter R M
Tuddenham E G
Goldman E
Matthews K B
References (6)
6 references, click to expand
  1. Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy.
    J Med Genet. 1978 Oct;15(5):339-45 PMID: 739522
  2. Estimation of male to female ratio of mutation rates from carrier-detection tests in X-linked disorders.
    Am J Hum Genet. 1980 Jul;32(4):582-8 PMID: 7395871
  3. Equilibrium frequencies in X-linked recessive disease.
    Am J Hum Genet. 1973 Jul;25(4):388-96 PMID: 4716658
  4. Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?
    Am J Med Genet. 1982 Aug;12(4):437-41 PMID: 7124796
  5. A probable sex difference in some mutation rates.
    Am J Hum Genet. 1977 May;29(3):312-9 PMID: 868880
  6. Genetic counseling in sex linkage.
    Birth Defects Orig Artic Ser. 1979;15(5C):9-24 PMID: 393324
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1983-00-00
Pages
156-9
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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