Subclinical Lung Disease, Macrocytosis, and Premature Graying in Kindreds With Telomerase (TERT) Mutations

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DE LEON A. D., CRONKHITE J. T., Yilmaz C., BREWINGTON C., WANG R., XING C., ...More

CHEST, vol.140, no.3, pp.753-763, 2011 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 140 Issue: 3
  • Publication Date: 2011
  • Doi Number: 10.1378/chest.10-2865
  • Journal Name: CHEST
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.753-763
  • Open Archive Collection: AVESIS Open Access Collection
  • Yıldız Technical University Affiliated: No

Abstract

Background: Mutations in the human gene encoding the protein component of telomerase (TERT) are the most common genetic defect in patients with familial idiopathic pulmonary fibrosis (IPF). The subclinical phenotypes of asymptomatic members of these families have not been evaluated with respect to TERT mutation status or telomere length.