TERC mutations in children with refractory cytopenia.
Haematologica
; 91(5): 707-8, 2006 May.
Article
em En
| MEDLINE
| ID: mdl-16670076
ABSTRACT
Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them.
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Bases de dados:
MEDLINE
Assunto principal:
Síndromes Mielodisplásicas
/
RNA
/
Mutação Puntual
/
Telomerase
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Haematologica
Ano de publicação:
2006
Tipo de documento:
Article