Characterisation of 96 mutations in 128 unrelated severe haemophilia A patients from France. Description of 62 novel mutations

Thrombosis and Haemostasis

Volumn 95, Issue 4, 2006, Pages 593-599

  Vinciguerra, Christine ^a,b   Zawadzki, Christophe ^c   Dargaud, Yesim ^a   Pernod, Gilles ^d   Berger, Claire ^e   Nougier, Christophe ^a   Négrier, Claude ^a,b  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b UNIVERSITÉ LYON 1   (France)

^c INSERM   (France)

^d GRENOBLE UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

Author keywords

Gene mutations; Haemophilia A B; Inherited coagulation disorders

Indexed keywords

ALANINE; ARGININE; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; DNA; GLYCINE; PHENYLALANINE; THREONINE; TYROSINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY STUDY; FRAMESHIFT MUTATION; FRANCE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; HEMOPHILIA A; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR MODEL; NONSENSE MUTATION; PATHOGENESIS; PATHOPHYSIOLOGY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

BLOOD COAGULATION TESTS; COHORT STUDIES; FACTOR VIII; FEMALE; FRANCE; GENE DELETION; HEMOPHILIA A; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MUTATION; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 33645730547     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-05-0379     Document Type: Article

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