A single thymine nucleotide deletion responsible for congenital deficiency of plasmin inhibitor

Thrombosis and Haemostasis

Volumn 88, Issue 1, 2002, Pages 144-148

  Yoshinaga, Haruhiko ^a   Nakahara, Masako ^a   Koyama, Takatoshi ^a   Shibamiya, Aya ^a   Nakazawa, Fumie ^a   Miles, Lindsey A ^a   Hirosawa, Shinsaku ^a   Aoki, Nobuo ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Fibrinolysis; Mutation; Plasmin inhibitor (PI); Thymine deletion

Indexed keywords

AMINO ACID; ANTIPLASMIN; PLASMIN; PYRIMIDINE NUCLEOTIDE; COMPLEMENTARY DNA; THYMIDINE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; BLEEDING TENDENCY; CELL LYSATE; CONGENITAL ANTIPLASMIN DEFICIENCY; CONGENITAL MALFORMATION; CONTROLLED STUDY; DELETION MUTANT; EXON; EXPRESSION VECTOR; FAMILY; FEMALE; FIBRINOLYSIS; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEMOSTASIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRON; MOLECULAR SIZE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PLASMA; PREDICTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEGRADATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; UNITED STATES; BLEEDING DISORDER; FAMILY HEALTH; FRAMESHIFT MUTATION; GENETIC DISORDER; GENETICS; ISOLATION AND PURIFICATION; MALE; MOLECULAR CLONING; MOLECULAR WEIGHT;

ANTIPLASMIN; CLONING, MOLECULAR; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, INBORN; HEMORRHAGIC DISORDERS; HUMANS; MALE; MOLECULAR WEIGHT; PEDIGREE; THYMIDINE;

EID: 0036317555     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613167     Document Type: Article

References (34)

1. Nomenclature of quantities and units in thrombosis and haemostasis (recommendation 1993). A Collaborative project of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis (ISTH/SSC) (IUPAC-IFCC/CQU(CC))
2. 2-plasmin inhibitor from human plasma. A novel proteinase inhibitor which inhibits activator-induced clot lysis
3. Purification and characterization of human antiplasmin, the fast-acting plasmin inhibitor in plasma
4. 2-plasmin inhibitor in human plasma
5. 2-plasmin inhibitor from human plasma and culture media of Hep G2 cells
6. 2-plasmin inhibitor gene
7. 2-plasmin inhibitor gene (PLI) to 17p13
8. 2-plasmin inhibitor gene (PLI) to chromosome 17, region pter-p12, by PCR analysis of somatic cell hybrids
9. 2-plasmin inhibitor in fibrinolytic states
10. 2-macroglobulin
11. 2-plasmin inhibitor
12. 2-plasmin inhibitor deficiency
13. 2-plasmin inhibitor to fibrin by fibrin-stabilizing factor
14. 2-plasmin inhibitor to fibrin catalyzed by activated fibrin-stabilizing factor
15. 2-plasmin inhibitor
16. 2-plasmin inhibitor to fibrin in inhibition of fibrinolysis and in hemostasis
17. Influence of factor XIIIa activity on human whole blood clot lysis in vitro
18. 2-antiplasmin enhances in vivo thrombolysis
19. 2-plasmin inhibitor
20. Genetic abnormalities of the fibrinolytic system
21. 2-plasmin inhibitor and its deficiency states
22. 2-plasmin inhibitor deficiencies: A review
23. 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence
24. 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport
25. 2-plasmin inhibitor
26. 2-antiplasmin) gene associated with a bleeding tendency
27. A novel point mutation of the splicing donor site in the intron 2 of the plasmin inhibitor gene
28. 2-antiplasmin Enschede: Alanine insertion and abolition of plasmin inhibitory activity
29. 2-antiplasmin
30. 2-plasmin inhibitor
31. 2-plasmin inhibitor
32. 2-antiplasmins: Fibrinolysis enhancement by reactive site mutant
33. 2-plasmin inhibitor
34. 2-plasmin inhibitor for degradation by the proteasome