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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2009
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| Materias: | |
| 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 |