Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)

MeSH terms

• Amino Acid Substitution
• Base Sequence
• DNA Mutational Analysis
• DNA, Complementary / chemistry
• DNA, Complementary / genetics
• Factor VIII / genetics*
• Frameshift Mutation
• Hemophilia A / genetics*
• Humans
• Mutation
• Mutation, Missense
• Point Mutation
• Polymorphism, Single-Stranded Conformational
• Sequence Deletion