Article
Human telomere disease due to disruption of the CCAAT box of the TERC promoter.
Blood - 29 Mar 2012
Aalbers Anna M, Kajigaya Sachiko, van den Heuvel-Eibrink Marry M, van der Velden Vincent H J, Calado Rodrigo T, Young Neal S
Abstract excerpt
Mutations in the coding region of telomerase complex genes can result in accelerated telomere attrition and human disease. Manifestations of telomere disease include the bone marrow failure syndromes dyskeratosis congenita and aplastic anemia, acute myeloid leukemia, liver cirrhosis, and pulmonary fibrosis. Here, we describe a mutation in the CCAAT box (GCAAT) of the TERC gene promoter in a family in which...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.