Detection of Mutations in Hemophilia A Patients by Chemical Cleavage of Mismatch Method
互联网
379
Hemophilia A is an X-linked disorder that leads to a defect in blood coagulation. This is caused by mutations in the factor VIII gene, which results in its activity being reduced or abolished in the blood-clotting cascade. The factor VIII gene is 186 kb long with 26 exons, varying from 69 bp (exon 5) to 3106 bp (exon 14) (1 ). The factor VIII mRNA is 9028 bases in length with a 7053 nucleotides long coding region (2 ).
