A novel mutation of α2-plasmin inhibitor gene causes an inherited deficiency and a bleeding tendency

Haemophilia

Volumn 14, Issue 1, 2008, Pages 166-

  Maino, Alberto ^a   Garagiola, I ^a   Artoni, A ^a   Al humood, S ^b   Peyvandi, F ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b KUWAIT UNIVERSITY   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 2 ANTIPLASMIN; DNA; TRANEXAMIC ACID; ANTIPLASMIN;

ADULT; ALPHA 2 ANTIPLASMIN DEFICIENCY; ARTICLE; BLEEDING DISORDER; BLEEDING TENDENCY; BLOOD CLOTTING TEST; BLOOD SAMPLING; CASE REPORT; ENZYME IMMUNOASSAY; FEMALE; FIBRINOLYSIS; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; HEMOSTASIS; HUMAN; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; POSTOPERATIVE HEMORRHAGE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE AGGREGATION; THROMBOCYTE FUNCTION; TOOTH EXTRACTION; VENOUS BLOOD; FAMILY HEALTH; GENETICS; HETEROZYGOTE; HOMOZYGOTE; LETTER; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION;

ADULT; ANTIPLASMIN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HEMORRHAGIC DISORDERS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; POINT MUTATION;

EID: 37749003178     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01588.x     Document Type: Article

References (5)

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3. Lind B, Thorsen S. A novel missense mutation in the human plasmin inhibitor (alpha2-antiplasmin) gene associated with a bleeding tendency. Br J Haematol 1999; 107: 317-22.
4. Maquat LE, Li X. Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay. RNA 2001; 7: 445-56.
5. Dale GL, Friese P, Batar P et.al. Stimulated platelets use serotonin to enhance their retention of procoagulant proteins on the cell surface. Nature 2002; 415: 175-9.