Three new cases of dysfibrinogenemia - Poissy III, Saint-Germain I and Tahiti

Thrombosis Research

Volumn 103, Issue 3, 2001, Pages 201-207

  Mathonnet, Florence ^a,b   Peltier, Jean Yves ^b   Roda, Laurent ^c   De Raucourt, Emmanuelle ^b   D'Hailly, François ^b   Tetegan, Marcelle ^b   Catherine, Nicole ^b   Vinatier, Isabelle ^b   De Mazancourt, Philippe ^a,d  

^a RAYMOND POINCARÉ HOSPITAL   (France)

^b CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^c Laboratoire de Biologie Médicale CHT Papeete Tahiti   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Dysfibrinogenemia; Mutation; Mutation detection

Indexed keywords

DNA FRAGMENT; FIBRINOGEN; FIBRINOGEN POISSY III; FIBRINOGEN SAINT GERMAIN I; FIBRINOGEN TAHITI; FLUORESCENT DYE; HETERODUPLEX; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA CLEAVAGE; DNA SEQUENCE; DYSFIBRINOGENEMIA; FEMALE; GENE; HETEROZYGOTE DETECTION; HUMAN; MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCREENING; TECHNIQUE;

ADULT; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; COAGULATION PROTEIN DISORDERS; DNA MUTATIONAL ANALYSIS; FEMALE; FIBRINOGENS, ABNORMAL; HETEROZYGOTE; HUMANS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 0035424729     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(01)00318-8     Document Type: Article

References (13)

1. Dysfibrinogenemia and thrombosis
2. Fibrinogen Poissy I: A new case of the AaArg 16His fibrinogen variant
3. Efficient detection of point mutations on color-coded strands of target DNA
4. Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the b-galactosidase A gene and detection of carriers in Fabry disease
5. Rapid detection of the fibrinogen Aa16Arg His mutation
6. Molecular scanning methods of mutation detection
7. Current methods of mutation detection
8. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
9. Reactivity of potassium permanganate and tetraethylammonium chloride with mismatched bases and a simple mutation detection protocol
10. High-resolution NMR studies of fibrinogen-like peptides in solution: Structural basis for the bleeding disorder caused by a single mutation of Gly(12) to Val(12) in the Aα chain of human fibrinogen Rouen
11. Thrombin-induced fibrinopeptide release from a fibrinogen variant (fibrinogen Sydney I) with an Aalpha Arg-16-His substitution