Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: Identification of seven novel mutations

Haemophilia

Volumn 17, Issue 5, 2011, Pages

  Albanez S ^a   Ruiz Saez A ^b   Boadas, A ^b   De Bosch, N ^b   Porco, A ^a  

^a UNIVERSIDAD SIMÓN BOLÍVAR   (Venezuela)

^b Centro Nacional de Hemofilia   (Venezuela)

Author keywords

Factor VIII; Inverse PCR; Molecular modelling; Mutations; Severe hemophilia A; Venezuela

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR;

3' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GEL ELECTROPHORESIS; GENE DELETION; GENE INSERTION; GENE MUTATION; HEMOPHILIA A; HUMAN; INTRON; INVERSE POLYMERASE CHAIN REACTION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SPLICING DEFECT; VENEZUELA;

DNA MUTATIONAL ANALYSIS; FACTOR VIII; GENETIC PREDISPOSITION TO DISEASE; HEMOPHILIA A; HUMANS; INTRONS; MALE; MUTATION; VENEZUELA;

EID: 80052030040     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02500.x     Document Type: Article

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