Article
Compound heterozygosity for two novel mutations in a severe factor XI deficiency.
American journal of hematology - 1 Aug 2003
Tsukahara Akiko, Yamada Takayuki, Takagi Akira, Murate Takashi, Matsushita Tadashi, Saito Hidehiko, Kojima Tetsuhito
Abstract excerpt
We identified two novel mutations in an asymptomatic 25-year-old Japanese patient with severe factor XI deficiency. Direct sequencing analysis of PCR products from his factor XI gene revealed a G to T transversion in exon 12, resulting in the nonsense mutation (Glu447Stop) and a G insertion in five consecutive guanine nucleotides ((501)Trp(TGG)-(502)Gly(GGG)) in exon 13 that is expected to lead to the...
Topics
- Adult
- Alleles
- Amino Acid Substitution
- Catalytic Domain
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Factor XI Deficiency
- Heterozygote
- Humans
- Male
- Mutation