Article
Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients.
Human molecular genetics - 1 Jan 1993
Naylor J A, Green P M, Rizza C R, Giannelli F
Abstract excerpt
Haemophilia A is a mutationally heterogeneous disease caused by defects in the large and complex factor VIII gene. Recent studies examining the putative promoter, all exons and most intron/exon boundaries have failed to detect mutations in half the patients with severe disease leading to hypothes...
Topics
- Amino Acid Sequence
- Codon
- DNA
- Exons
- Factor VIII
- Frameshift Mutation
- Hemophilia A
- Humans
- Introns
- Lymphocytes
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- RNA, Messenger