Afibrinogenemia: First identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation

Blood

Volumn 96, Issue 7, 2000, Pages 2496-2500

  Asselta, R ^a   Duga, S ^a   Simonic, T ^a   Malcovati, M ^a   Santagostino, E ^a   Giangrande, P L F ^a   Mannuccio Mannucci, P ^a   Tenchini, M L ^a  

^a Dipto Biol Gen per le Sci Med   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; MESSENGER RNA; MUTANT PROTEIN; PROTEIN SUBUNIT; RNA; SIGNAL PEPTIDE;

AFIBRINOGENEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CONTROLLED STUDY; FIBRINOGEN BLOOD LEVEL; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HELA CELL; HUMAN; HUMAN CELL; INTRON; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SPLICING; SEQUENCE ANALYSIS; STOP CODON;

EID: 0034307666     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v96.7.2496     Document Type: Article

References (32)

1. Fibrinogen structure and fibrin clot assembly
2. The acute phase response: An overview
3. Fibrinogen and fibrin
4. Evolution and organization of the fibrinogen locus on chromosome 4: Gene duplication accompanied by transposition and inversion
5. Uber-faserstoffmangel im Blute bei einem Falle von Hamophilie
6. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
7. Congenital afibrinogenemia
8. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia
9. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrogenemia
10. The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster
11. Sustained correction of the bleeding time in an afibrinogenaemic patient after infusion of fresh frozen plasma
12. Biochemical transfer of single-copy eukaryotic gene using total cellular DNA as donor
13. Hypofibrinogenemia associated with a heterozygous missense mutation γ153Cys to arg (Matsumoto IV): In vitro expression demonstrates defective secretion of the variant fibrinogen
14. Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene
15. Inherited factor VII deficiency: Genetics and molecular pathology
16. The factor VIII structure and mutation resource site: HAMSTERS version
17. Protein C deficiency: A data base of mutations, 1995 update
18. Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene
19. Antithrombin III mutation database: First update
20. Acatalogue of splice junction sequences
21. Paris I dysfibrinogenemia: A point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain
22. Hypofibrinogenemia in an individual with 2 coding γ82 A → G and Bβ235 P → L) and 2 noncoding mutations
23. Modification of fibrinogen chains during synthesis: Glycosylation of B beta and gamma chains
24. Identification of a glucocorticoid response element in the human gamma chain fibrinogen promoter
25. Assembly and Secretion of recombinant human fibrinogen
26. A frameshift mutation in exon V of the Aα-chain gene leading to truncated Aα-chains in the homozygous dysfibrinogen Milano III
27. Fibrinogen Otago: A major α chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage
28. Fibrinogen Lincoln: A new truncated γchain variant with severe delayed clotting
29. Fibrinogen Marburg: A homozygous case of dysfibrinogenemia, lacking amino acids Aα 461-610 (Lys 461 AAA → Stop TAA)
30. Fibrinogen Brescia: Hypofibrinogenemia and hepatic fibrinogen storage are associated with a gamma chain substitution (284 Gly to Arg) and hypersialylation of the circulating
31. Mutations in the fibrinogen A gene account for the majority of cases of congenital afibrinogenemia
32. Homozygous truncation of the fibrinogen A chain within the coiled coil causes congenital afibrinogenemia