Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis [4]

Haemophilia

Volumn 13, Issue 2, 2007, Pages 221-222

  Trigui, N ^a   Frere C ^a,b   D'Ercole, C ^d   Chambost, H ^b,c   Chapuis, N ^a   Pouymayou, C ^b   Morange, P ^b,c   de Mazancourt, Philippe ^a,e  

^a RAYMOND POINCARÉ HOSPITAL   (France)

^b TIMONE HOSPITAL   (France)

^c AIX MARSEILLE UNIVERSITY   (France)

^d HÔPITAL NORD   (France)

^e LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13 CONCENTRATE; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 8A; DNA;

ADULT; BLEEDING TENDENCY; BLEEDING TIME; BRAIN HEMORRHAGE; CASE REPORT; CONSANGUINEOUS MARRIAGE; DELAYED DIAGNOSIS; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE INSERTION; GENETIC POLYMORPHISM; HEMOPHILIA A; HOMOZYGOSITY; HUMAN; LABORATORY TEST; LETTER; NONSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PREGNANCY OUTCOME; PRIORITY JOURNAL; PROTHROMBIN TIME; SENSITIVITY AND SPECIFICITY; SPONTANEOUS ABORTION; WOUND HEALING IMPAIRMENT;

ABORTION, HABITUAL; ADULT; FACTOR XIII DEFICIENCY; FACTOR XIIIA; FEMALE; HUMANS; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PREGNANCY OUTCOME;

EID: 33846940069     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2006.01432.x     Document Type: Letter

References (5)

1. Greenberg CS, Sane DS, Lai TS. Factor XIII and fibrin stabilization. In: Colman RW, Marder VJ, Clowes AW, George JN, Golharber SZ, eds. Hemostasis and Thrombosis. Basic Principles and Clinical Practice, 5th edn. Philadelphia, PA: Lippincott Williams and Wilkins, 2006: 317-34.
2. Chung SI, Lewis MS, Folk JE. Relationships of the catalytic properties of human plasma and platelet transglutaminases (activated blood coagulation factor XIII) to their subunit structure. J Biol Chem 1974; 249: 940-50.
3. Muszbek L, Adany R, Mikkola H. Novel aspects of blood coagulation factor XIII. Structure distribution, activation and function. Crit Res Clin Lab Sci 1996; 33: 357-421.
4. Burrows RF, Ray JG, Burrows EA. Bleeding risk and reproductive capacity among patients with factor XIII deficiency: A case presentation and review of the literature. Obstet Gynecol Surv 2000; 55: 103-8.
5. Ichinose A, Bottenus RE, Davie EW. Structure of transglutaminases. J Biol Chem 1990; 265: 13411-4.