Article
A spectrum of severe familial liver disorders associate with telomerase mutations.
PloS one - 20 Nov 2009
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
Abstract excerpt
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 pulmonary fibrosis. Here, we sought to determine the spectrum of clinical manifestations associated with telomerase...
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