Article
Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2001
Timur A A, Gürgey A, Aktuglu G, Kavakli K, Canatan D, Olek K, Caglayan S H
Abstract excerpt
Haemophilia A is an X-linked recessive bleeding disorder caused by heterogeneous mutations in the factor VIII gene. In an attempt to reveal the molecular pathology of Turkish haemophilia A patients, the coding sequence of the gene, excluding a large portion of exon 14, was amplified from genomic DNA and subjected to denaturing gradient gel electrophoresis prior to DNA sequencing. Fifty-nine haemophilia A patients...
Topics
- DNA Mutational Analysis
- Factor VIII
- Family Health
- Hemophilia A
- Humans
- Mass Screening
- Mutation
- Phenotype
- Sex Factors
- Turkey