Fibrinogen Leipzig II (γ351Gly→Ser and γ82Ala→Gly): Hypodysfibrinogenaemia due to two independent amino acid substitutions within the same polypeptide chain

Thrombosis and Haemostasis

Volumn 98, Issue 4, 2007, Pages 903-905

  Meyer, Michael ^a   Dietzel, Hermann ^b   Kaetzel, Ralph ^b   Schmidt, David ^a   Liebscher, Karin ^b   Brennan, Stephen O ^c  

^a UNIVERSITY OF APPLIED SCIENCES JENA   (Germany)

^b Klinikum St Georg   (Germany)

^c CANTERBURY HEALTH LABORATORIES   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; FIBRINOGEN; GENOMIC DNA; GLYCINE; POLYPEPTIDE; SERINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLEEDING; BLOOD ANALYSIS; CASE REPORT; DNA DETERMINATION; DYSFIBRINOGENEMIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HAPLOTYPE; HETEROZYGOSITY; HUMAN; INHERITANCE; LABORATORY TEST; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STRUCTURE; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SEQUENCE ANALYSIS;

ADULT; AFIBRINOGENEMIA; ALANINE; FIBRINOGEN; GLYCINE; HAPLOTYPES; HEMORRHAGE; HETEROZYGOTE; HUMANS; MALE; MODELS, GENETIC; MUTATION; SERINE; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TIME FACTORS;

EID: 35048870051     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-02-0084     Document Type: Article

References (10)

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3. Database of fibrinogen variants. Available at: http://www.geht.org.
4. Brennan SO, Fellowes AP, Faed JM, et al. Hypofibrinogenemia in an individual with two coding (γ82 A→G and BβP→L) and two noncoding mutations. Blood 2000; 95: 1709-1713.
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6. Wyatt J, Brennan SO, May S, et al. Hypofibrinogenaemia with compound heterozygosity for two γ chain mutations - γ82 Ala→Gly and an intron two GT→AT splice site mutation. Thromb Haemost 2000; 84: 449-452.
7. Meyer M, Franke K, Richter W, et al. New molecular defects in the γ subdomain of fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Subl. Thromb Haemost 2003; 89: 637-646.
8. Hanss M, Ffrench P, Vinciguerra C, et al. Four cases of hypofibrinogenemia associated with four novel mutations. J Thromb Haemost 2005; 3: 2347-2349.
9. Steinmann C, Boegli C, Jungo M, et al. A new substitution, γ358 Ser→Cys, in fibrinogen Milano VII causes defective fibrin polymerisation. Blood 1994; 84:1874-1880.
10. Mathonnet F, Guillon L, Detruit H, et al. Fibrinogen Poissy II (gammaN361K): a novel dysfibrinogenemia associated with defective polymerisation and peptide B release. Blood Coagul Fibrinol 2003; 14: 293-298.