Article
Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).
Thrombosis and haemostasis - 6 May 1991
Hamaguchi M, Matsushita T, Tanimoto M, Takahashi I, Yamamoto K, Sugiura I, Takamatsu J, Ogata K, Kamiya T, Saito H
Abstract excerpt
Enzymatic DNA amplification and complete sequence analysis were used to investigate human factor IX coding sequences in three CRM+ hemophilia B patients. In a patient with severe hemophilia B and a markedly prolonged ox-brain prothrombin time, a C to T transition in exon VI changed the codon for...
Topics
- Amino Acid Sequence
- Base Sequence
- Cross Reactions
- DNA
- Electrophoresis, Polyacrylamide Gel
- Exons
- Factor IX
- Gene Amplification
- Genetic Carrier Screening
- Hemophilia B
- Humans
- Japan
- Molecular Sequence Data
- Mutation
- Oligonucleotides