The mother of the patient, who appeared to be a non-carrier on the basis of coagulation assays and restriction fragment length polymorphism analysis in the family, turned out to be a mosaic for the deletion, not only in her germ cells, but also in various somatic cells. These findings ...
Summary Background More than 1100 mutations that cause hemophilia B ( HB ) have been identified. At the same time, specific F9 mutations are present at high frequencies in certain populations, which raise questions about the origin of HB mutations. Objectives To describe the mutation spectrum of...
Mutation detection, prenatal testing, and delineation of the germline origin in a family with sporadic hemophilia B and no living hemophiliacs.biology and medicine, basic studieshemophiliadiagnostic techniquesgene mutationsdetectiongenesdna sequencingNo abstract is available for this article....
High prevalence of GB virus C strains genetically related to strains with Asian origin in Nicaraguan hemophiliacs - Perez, A, et al. - 1997 () Citation Context ...en recovered from Pygmy and other African populations (27a, 28). These genotype distributions can potentially be mapped to the ...