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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Prenatal diagnosis of hemophilia involving grandpaternal mosaicism.

Our Factor VIII and RFLP analyses identified previously unreported grandpaternal hemophilia A mosaicism in a male who transmitted the disease allele to 2 of 4 daughters and 2 of 4 grandsons. An uncommon flanking polymorphic DXS52 allele cosegregated with this grandpaternal mutant allele. This and other reports of mosaic hemophilia A carriers indicate that parental mosaicism can explain unusual segregation of low Factor VIII activities and DNA polymorphisms in about 1% of hemophilia A pedigrees.[1]


  1. Prenatal diagnosis of hemophilia involving grandpaternal mosaicism. Lebo, R.V., Koerper, M.A., Kim, J.H., Chueh, J., Golbus, M.S. Am. J. Med. Genet. (1993) [Pubmed]
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