INVESTIGADORES
RADIC Claudia Pamela
artículos
Título:
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.
Autor/es:
MARTÍN M ABELLEYRO; LILIANA C. ROSSETTI; MARIA DE LOS ANGELES CURTO; CLAUDIA P. RADIC; VANINA MARCHIONE; CARLOS D. DE BRASI
Revista:
THROMBOSIS AND HAEMOSTASIS
Editorial:
SCHATTAUER GMBH-VERLAG MEDIZIN NATURWISSENSCHAFTEN
Referencias:
Lugar: Stuttgart ; Año: 2016 vol. 115 p. 678 - 681
ISSN:
0340-6245
Resumen:
One in 5,000 human males worldwide suffers from haemophilia A (HA), the commonest X-linked coagulopathy caused by deleterious mutations in the factor VIII gene (F8). Among them, intron 22 inversions (INV22) cause severe-HA (FVIII:C
