Novel fibrinogen Bβ gene mutation causing hypofibrinogenaemia

Thrombosis and Haemostasis

Volumn 88, Issue 6, 2002, Pages 1066-1067

  Homer, Vivienne M ^a,b   Brennan, Stephen O ^a   George, Peter M ^a  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

^b UNIVERSITY OF CANTERBURY   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; FIBRINOGEN B BETA; PEPTIDE; UNCLASSIFIED DRUG; BBETA FIBRINOGEN; DNA;

AGED; ALPHA CHAIN; CASE REPORT; CELL STRAIN COS1; CONTROLLED STUDY; DNA SEQUENCE; DONOR; EUKARYOTE; EXON; FIBRINOGEN BLOOD LEVEL; GENE; GENE MAPPING; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; HYPOFIBRINOGENEMIA; INTRON; LETTER; LIVER CELL; MALE; MASS SPECTROMETRY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN POLYMERIZATION; PROTEIN PURIFICATION; RESIDUE ANALYSIS; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; STOP CODON; TERMINAL SEQUENCE; AFIBRINOGENEMIA; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN TERTIARY STRUCTURE; RNA SPLICING;

AFIBRINOGENEMIA; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; FIBRINOGEN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES;

EID: 0036917175     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613356     Document Type: Letter

References (7)

1. Brennan SO, Hammonds B and George PM. Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (Aα20 Val→Asp). J Clin Invest 1995; 96: 2854-8.
2. Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost 1997; 78: 1055-8.
3. Saiki RK, Chang CA, Levenson CH, Warren TC, Boehm CD, Kazazian HH Jr, Erlich HA. Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Engl J Med 1988; 319: 537-41.
4. Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997; 389: 6650, 455-62.
5. Brennan SO, Wyatt JM, May S, De Caigney S and George PM. Hypofibrinogenemia due to novel 316 Asp → Tyr substitution in the fibrinogen Bβ chain. Thromb Haemost 2001; 85: 450-3.
6. Zhang JZ and Redman CM. Identification of Bβ chain domains involved in human fibrinogen assembly. J Biol Chem 1992; 267: 21727-32.
7. Homer VM, Brennan SO, Ockelford P, George PM. Novel fibrinogen truncation with deletion of Bβ chain residues 440-461 causes hypofibrinogenaemia. Thromb Haemost 2002; 88: 427-31.