IMEX   05356
INSTITUTO DE MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
p.M1304V: a new mutation in the a1 domain associated to atypical von Willebrand 2B PHENOTYPE.
Autor/es:
WOODS AI; SANCHEZ-LUCEROS A; KEMPFER, AC; BERMEJO EI; CALDERAZZO JC; GROSSO S; MESCHENGIESER SS; LAZZARI MA
Lugar:
Liverpool
Reunión:
Congreso; SSC ISTH; 2012
Institución organizadora:
ISTH
Resumen:
We described here a new heterozygous missense substitution responsible for VWD2M phenotype. Given that the substitution was not found in 200 normal alleles, and considered as probably damaging by in silico studies, we consider it is not a polymorphism. Thus, we can assert that it is a mutation. Expression studies would be confirmatory of the causality of this mutation.