Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: Modeling of 13 novel amino acid substitutions

Journal of Thrombosis and Haemostasis

Volumn 1, Issue 4, 2003, Pages 773-781

  Habart, D ^a   Kalabova, D ^a   Novotny, M ^a,b   Vorlova, Z ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UPPSALA UNIVERSITY   (Sweden)

Author keywords

Factor VIII; Molecular modeling; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9A;

AMINO ACID SUBSTITUTION; ARTICLE; CHEMICAL STRUCTURE; CHEMISTRY; COHORT ANALYSIS; FAMILY HEALTH; GENETICS; HEMOPHILIA A; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN BINDING; PROTEIN CONFORMATION;

AMINO ACID SUBSTITUTION; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FACTOR IXA; FACTOR VIII; FAMILY HEALTH; HEMOPHILIA A; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN BINDING; PROTEIN CONFORMATION;

EID: 0142259264     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1046/j.1538-7836.2003.00149.x     Document Type: Article

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