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
em 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
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fator V
/
RNA Mensageiro
/
Mutação da Fase de Leitura
/
Códon sem Sentido
/
Sítios de Splice de RNA
/
Deficiência do Fator V
Limite:
Female
/
Humans
Idioma:
En
Revista:
Haematologica
Ano de publicação:
2008
Tipo de documento:
Article