Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

  title={Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.},
  author={Chad A. Newton and Kiran Batra and Jose R. Torrealba and Julia Kozlitina and Craig S. Glazer and C. Carlos Aravena and Keith C Meyer and Ganesh Raghu and Harold R. Collard and Christine Kim Garcia},
  journal={The European respiratory journal},
  volume={48 6},
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 clinical data were analysed.Approximately one-half (46%) had a multidisciplinary… CONTINUE READING
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