Carrier detection tests were carried out in 119 families with hemophilia A by using the data
obtained with current DNA techniques (eg, RFLP analysis and direct identification of …

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 …

A maximum likelihood estimate of the sex ratio of mutation rates in Haemophilia A Page 1
Hum Genet (1983) 64:156-159 © Springer-Verlag 1983 A Maximum Likelihood Estimate of the …

Previous epidemiological and biochemical studies have generated conflicting estimates of
the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis …

A population-based study of hemophilia B mutations was conducted in the United Kingdom
in order to construct a national confidential database of mutations and pedigrees to be used …

A hereditary disease with excess mortality such as haemophilia is maintained in the
population by the occurrence of new cases, ie mutations. In haemophilia, mutations may …

We analyzed a sample of 1,485 families with hemophilia A and B and with unknown
diagnosis. The frequency of sporadic cases was estimated to be. 166 and. 078 for the two …

A fully penetrant, dominant gene, lethal before reproductive age, would offer optimal
possibilities to test hypotheses about mutation rates. In man, there are several dominant …

A large survey of hemophilia A carried out with almost complete ascertainment on the island
of Sardinia suggests that the variation of plasma levels of Factor VIII coagulant activity in …

The clinical manifestation of hemophilia A is caused by a wide range of different mutations.
In this study the factor VIII genes of 147 severe hemophilia A patients--all exclusively from …