Factor XIII, subunit deficiency due to a homozygous 13-base pair deletion in exon 3 of the a subunit gene

American Journal of Hematology

Volumn 53, Issue 2, 1996, Pages 77-80

  Aslam, Shazia ^a   Bowen, Derrick J ^b   Mandalaki, Thaki ^c   Gialeraki, Renia ^c   Standen, Graham R ^a  

^a BRISTOL ROYAL INFIRMARY   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c LAIKO GENERAL HOSPITAL   (Greece)

Author keywords

Deletion; Factor XIII; Mutation

Indexed keywords

ARTICLE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; EXON; FEMALE; GENE DELETION; GREECE; HOMOZYGOSITY; HUMAN; HUMAN CELL; MOLECULAR GENETICS; MUTATION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CRYSTALLOGRAPHY, X-RAY; EXONS; FACTOR XIII; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN CONFORMATION; TRANSGLUTAMINASES;

EID: 0029864477     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199610)53:2<77::AID-AJH4>3.0.CO;2-0     Document Type: Article

References (21)

1. Board PG, Losowsky MS, Miloszewski KJA: Factor XIII: Inherited and acquired deficiency. Blood Rev 7:229, 1993.
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 structures. J Biol Chem 249:940, 1974.
3. Takagi T, Doolittle RF: Amino acid sequence studies on factor XIII and the peptide released during its activation by thrombin. Biochemistry 13:750, 1974.
4. Curtis CG, Brown KL, Credo RB, Domanik RA, Gray A, Stenberg P, Lorand L: Calcium-dependent unmasking of active centre cysteine during activation of fibrin stabilizing factor. Biochemistry 13:3774, 1974.
5. Lorand L, Chenoweth D, Domanik RA: Chain pairs in the cross linking of fibrin. Biochem Biophys Res Commun 37:219, 1969.
6. Folk JE, Finlayson JS: The epsilon-(gamma-glutamyl) lysine cross link and the catalytic role of transglutaminases. Adv Protein Chem 31:1, 1977.
7. Mosher DF, Johnson RB: Cross-linking of collagen and fibronectin by factor XIIIa. J Biol Chem 255:1181, 1983.
8. Yee VC, Pederson LC, Trong IL, Bishop PD, Stenkamp RE, Teller DC: Three dimensional structure of a transgluatminase: Human blood coagulation factor XIII. Proc Natl Acad Sci USA 91:7296, 1994.
9. Hashiguchi T, Saito M, Morishita E, Matsuda T, Ichinose A: Two genetic defects in a patient with complete deficiency of the b subunit for caogulation factor XIII. Blood 82:145, 1993.
10. Grundmann U, Amann E, Zettlmeissl G, Kupper HA: Characterization of cDNA coding for human factor XIIIa. Proc Natl Acad Sci USA 83:8024, 1986.
11. Ichinose A, Davie EW: Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 85:5829, 1988.
12. A subunit deficiency. Blood 80:937, 1992.
13. A deficiency. Br J Haematol 85:769, 1993.
14. Mikkola H, Syrjala M, Rasi V, Vahtera E, Hamalainen E, Peltonen L, Palotie A: Deficiency in the A-subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels. Blood 84:517, 1994.
15. Coggan M, Baker R, Miloszewski K, Woodfield G, Board P: Mutations causing coagulation factor XIII subunit A deficiency: Characterization of the mutant proteins after expression in yeast. Blood 85:2455, 1995.
16. A subunit. Br J Haematol 91:452, 1995.
17. A subunit caused by the dinucleotide deletion at the 5′ end of exon III. J Clin Invest 90:315, 1992.
18. Kunkel LM, Smith KD, Boyer SH, Borgaonker DS, Wachtel SS, Miller DJ, Breg WR, Jones HW, Rary JM: Analysis of human Y-chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci 74:1245, 1977.
19. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single stranded conformation polymorphisms. Proc Natl Acad Sci USA 86:2766, 1989.
20. Kraulis PJ: MOLSCRIPT: A program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 24:946, 1991.
21. A deficiency. Thromb Haemost 73:895, 1995.