Article
Telomerase mutations in families with idiopathic pulmonary fibrosis.
The New England journal of medicine - 29 Mar 2007
Armanios Mary Y, Chen Julian J-L, Cogan Joy D, Alder Jonathan K, Ingersoll Roxann G, Markin Cheryl, Lawson William E, Xie Mingyi, Vulto Irma, Phillips John A, Lansdorp Peter M, Greider Carol W, Loyd James E
Abstract excerpt
BACKGROUND: Idiopathic pulmonary fibrosis is progressive and often fatal; causes of familial clustering of the disease are unknown. Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis....
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