Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency.
Haematologica
; 93(3): 477-8, 2008 Mar.
Article
en En
| MEDLINE
| ID: mdl-18310546
ABSTRACT
We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects, and correction for nonsense mediated decay, suggested the presence of 0.1% of normal factor V mRNA.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Factor V
/
ARN Mensajero
/
Mutación del Sistema de Lectura
/
Codón sin Sentido
/
Sitios de Empalme de ARN
/
Deficiencia del Factor V
Límite:
Female
/
Humans
Idioma:
En
Revista:
Haematologica
Año:
2008
Tipo del documento:
Article