Article
Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C.
The Journal of laboratory and clinical medicine - 1 Jun 1992
Yamamoto K, Matsushita T, Sugiura I, Takamatsu J, Iwasaki E, Wada H, Deguchi K, Shirakawa S, Saito H
Abstract excerpt
We analyzed the promoter region and all the coding exons and exon-intron boundaries of the protein C gene in a Japanese patient with recurrent thromboembolism and complete protein C deficiency. By sequencing these fragments we identified a previously undescribed mutation. A guanine residue was re...
Topics
- Adult
- Base Sequence
- Cloning, Molecular
- Exons
- Female
- Homozygote
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Oligodeoxyribonucleotides
- Pedigree
- Polymerase Chain Reaction