Article
Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.
Blood - 1 Feb 1990
Casula L, Murru S, Pecorara M, Ristaldi M S, Restagno G, Mancuso G, Morfini M, De Biasi R, Baudo F, Carbonara A
Abstract excerpt
Hemophilia A (HA), a common inherited bleeding disorder in humans, is due to the deficiency or absence of the factor VIII (FVIII) activity. The cloning of the FVIII gene has made molecular probes available for the characterization of the basic defect in this disease. In this study we describe six different mutations in the FVIII gene detected by DNA analysis of 100 HA patients of Italian descent. In two of them,...
Topics
- Base Sequence
- Blotting, Southern
- Chromosome Deletion
- DNA Probes
- Factor VIII
- Gene Rearrangement
- Genes
- Hemophilia A
- Humans
- Italy
- Molecular Sequence Data