Article
Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.
The European respiratory journal - 1 Dec 2016
Newton Chad A, Batra Kiran, Torrealba Jose, Kozlitina Julia, Glazer Craig S, Aravena Carlos, Meyer Keith, Raghu Ganesh, Collard Harold R, Garcia Christine Kim
Abstract excerpt
Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about similarities or differences of affected individuals.115 patients with mutations in telomerase reverse transcriptase (TERT) (n=75), telomerase RNA component (TERC) (n=7), regulator of telomere elongation helicase 1 (RTEL1) (n=14) and poly(A)-specific ribonuclease (PARN) (n=19) were identified and...
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