Article
Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis.
Thrombosis and haemostasis - 1 Apr 1997
Nakahara Y, Tsuji H, Nakagawa K, Masuda H, Kitamura H, Nishimura H, Kasahara T, Sugano T, Sawada S, Nakagawa M
Abstract excerpt
We have identified two novel minor deletions (case 1; -TA or -AT at nucleotide 9831-3 in exon 5 and case 2; -A at nucleotide 7640-1 in exon 4), one novel nonsense mutation (case 3; TAT to TAA at nucleotide 7491 in exon 4), and one recurrent nonsense mutation (case 4; CGA to TGA at nucleotide 5381...
Topics
- Adult
- Antithrombin III Deficiency
- Exons
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Japan
- Male
- Middle Aged
- Point Mutation
- Sequence Analysis, DNA