Article
Somatic origin of inherited haemophilia A.
Human genetics - 1 Aug 1990
Bröcker-Vriends A H, Briët E, Dreesen J C, Bakker B, Reitsma P, Pannekoek H, van de Kamp J J, Pearson P L
Abstract excerpt
We found a partial deletion of the clotting factor VIII gene of about 2000 bp, spanning exon 5 and part of intervening sequence 4 and 5 in an isolated patient with severe haemophilia A. 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...
Topics
- Chromosome Deletion
- Chromosome Mapping
- Factor VIII
- Female
- Hemophilia A
- Humans
- Male
- Mosaicism
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length