A novel mutation (2409delT) in exon 14 of the factor VIII gene causes revere haemophilia A

Human Heredity

Volumn 50, Issue 4, 2000, Pages 266-267

  Vidal, Francisco ^a   Farssac, Elisenda ^a   Altisent, Carme ^b   Puig, Lluís ^b   Gallardo, Dominique ^a  

^a Unitat Recerca Ctr Transfusio B   (Spain)

^b HOSPITAL GENERAL DE CATALUNYA   (Spain)

Author keywords

Automated DNA sequencing; Factor VIII; Haemophilia A; Mutations

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ARTICLE; CASE REPORT; FRAMESHIFT MUTATION; GENE SEQUENCE; HEMOPHILIA A; HUMAN; MALE; PRESCHOOL CHILD; STOP CODON;

EID: 0034055676     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022928     Document Type: Article

References (2)

1. Liu Q, Nozari G, Sommer SS: Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998;92:1458-1459.
2. Kemball-Cook G, Tuddenham EGD, Wacey AI: The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 4. Nucleic Acids Res 1998;26:216-219.