Molecular diagnostics of 15 hemophilia a patients: Characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping

Human Mutation

Volumn 12, Issue 5, 1998, Pages 301-303

  Tavassoli, Kamiab ^a   Eigel, Antonin ^a   Wilke, Klaus ^a   Pollmann, Hartmut ^a   Horst, Jürgen ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Factor VIII (FVIII); Mutation (splicing, deletion, missense); SSCP analysis

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ARTICLE; CASE REPORT; DNA SEQUENCE; EXON; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HEMOPHILIA A; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; PRIORITY JOURNAL;

ANIMALS; CERULOPLASMIN; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR VIII; HEMOPHILIA A; HUMANS; MICE; MUTATION; MUTATION, MISSENSE; RNA SPLICING; SEQUENCE DELETION;

EID: 0031719415     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:5<301::AID-HUMU2>3.0.CO;2-G     Document Type: Article

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