A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations

BACKGROUND: Telomerase is an enzyme specialized in maintaining telomere lengths in highly proliferative cells. Loss-of-function mutations cause critical telomere shortening and are associated with the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia and with idiopathic pulmon...

Descripción completa

Detalles Bibliográficos
Autores principales: Calado, Rodrigo T., Regal, Joshua A., Kleiner, David E., Schrump, David S., Peterson, Nathan R., Pons, Veronica, Chanock, Stephen J., Lansdorp, Peter M., Young, Neal S.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775683/
https://www.ncbi.nlm.nih.gov/pubmed/19936245
http://dx.doi.org/10.1371/journal.pone.0007926

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775683/
https://www.ncbi.nlm.nih.gov/pubmed/19936245
http://dx.doi.org/10.1371/journal.pone.0007926

Ejemplares similares