Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: Structural analysis of 20 missense mutations suggests new intermolecular binding sites

Blood

Volumn 111, Issue 7, 2008, Pages 3468-3478

  Venceslá, Adoración ^a   Corral Rodríguez, Maria Ángeles ^b   Baena, Manel ^a   Cornet, Mónica ^a   Domènech, Montserrat ^a   Baiget, Montserrat ^a   Fuentes Prior, Pablo ^b   Tizzano, Eduardo F ^a,b  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; CARRIER PROTEIN; GLYCINE; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; PROLINE; SCAVENGER RECEPTOR; VALINE; VON WILLEBRAND FACTOR; BLOOD CLOTTING FACTOR 9A; F8 PROTEIN, HUMAN; MULTIPROTEIN COMPLEX;

ARTICLE; BINDING SITE; BLEEDING DISORDER; F8 GENE; FRAMESHIFT MUTATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC COUNSELING; HEMOPHILIA A; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SPAIN; STRUCTURE ANALYSIS; X CHROMOSOME LINKED DISORDER; CHEMICAL STRUCTURE; GENETICS; INTRON; METABOLISM; PROTEIN BINDING; STOP CODON; STRUCTURE ACTIVITY RELATION;

BINDING SITES; CODON, NONSENSE; FACTOR IXA; FACTOR VIII; FRAMESHIFT MUTATION; HEMOPHILIA A; HUMANS; INTRONS; LDL-RECEPTOR RELATED PROTEINS; MODELS, MOLECULAR; MULTIPROTEIN COMPLEXES; MUTATION, MISSENSE; PROTEIN BINDING; RNA SPLICING; SPAIN; STRUCTURE-ACTIVITY RELATIONSHIP; VON WILLEBRAND FACTOR;

EID: 43549103153     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2007-08-108068     Document Type: Article

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