Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bβ58 (3404delA) associated with thrombotic stroke in infancy

Thrombosis and Haemostasis

Volumn 95, Issue 4, 2006, Pages 738-739

  Brennan, Stephen O ^a   Mosesson, Michael W ^b   Lowen, Robin ^a   Siebenlist, Kevin R ^b   Matsunaga, Alison ^c  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

^b BLOOD RESEARCH INSTITUTE   (United States)

^c CHILDREN S HOSPITAL OAKLAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; FIBRINOGEN; NUCLEOTIDE; PROTHROMBIN; THROMBIN; THROMBOPLASTIN;

ADULT; ARTICLE; BLOOD EXAMINATION; CASE REPORT; CODON; DISEASE ASSOCIATION; FEMALE; FIBRINOGEN BLOOD LEVEL; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HEMIPARESIS; HETEROZYGOSITY; HUMAN; HYPOFIBRINOGENEMIA; INFANCY; PARTIAL THROMBOPLASTIN TIME; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTHROMBIN TIME; SEIZURE; SKIN BRUISING; STROKE; THROMBIN TIME; THROMBOSIS; VON WILLEBRAND DISEASE;

ADOLESCENT; ADULT; AFIBRINOGENEMIA; AMINO ACID SEQUENCE; BASE SEQUENCE; CEREBROVASCULAR ACCIDENT; FAMILY HEALTH; FEMALE; FIBRINOGEN; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; THROMBOSIS;

EID: 33645747979     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-09-0609     Document Type: Article

References (11)

1. Mosesson MW. Hereditary Fibrinogen Abnormalities. In: Williams Hematology. New York, McGrawHill; 2006; 1909-27.
2. Lack M, Keihani M, Elabi F, et al. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999; 107: 204-6.
3. Ridgway H, Brennan SO, Faed J, et al. Fibrinogen Otago a new mutation causing α chain truncation and severe hypofibrinogemia. Brit J Haematol 1997; 98: 632-9.
4. Mosesson MW. Antithrombin I. Inhibition of thrombin generation in plasma by fibrin formation. Thromb Haemost 2003; 89: 9-12.
5. Dear A, Daly J, Brennan SO, et al. An intronic mutation within FGB (IVSI+2076 a→g) is associated with afibrinogenemia and recurrent transient ischemic attacks. J Thromb Haemost 2006; 4: 471-2.
6. Maghzal GJ, Brennan SO, Homer VM, et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-38.
7. Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001; 936: 89-90.
8. Reese MG, Eeckman FH, Kulp D, et al. Improved splice site detection in genie. J Comp Biol 1997; 4: 311-23.
9. Standeven KF, Grant PJ, Carter AM, et al. Functional analysis of the fibrinogen Aα Thr312Ala polymorphism effects on fibrin structure and function. Circulation 2003; 107: 2326-30.
10. Carter AM, Catto AJ, Grant PJ. Association of the α-fibrinogen Thr312Ala polymorphism with post-stroke mortality in subjects with atrial fibrillation. Circulation 1999; 99: 2423-6.
11. Carter AM, Catto AJ, Kohler HP, et al. Fibrinogen Thr312Ala polymorphism and venous thromboembolism. Blood 2000; 96: 1177-9.