Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.

Abstract excerpt

Haemophilia A is a common X-linked recessive disorder of bleeding caused by deleterious mutations in the gene for clotting factor VIII. The large size of the factor VIII gene, the high frequency of de novo mutations and its tissue-specific expression complicate the detection of mutations. We have used a combination of reverse transcription/polymerase chain reaction (RT-PCR) of ectopic factor VIII transcripts and...

Topics

• Amino Acid Sequence
• Base Sequence
• DNA
• DNA Primers
• Factor VIII
• Genetic Carrier Screening
• Hemophilia A
• Humans
• Molecular Sequence Data
• Mutation
• Phenotype