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


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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 140 Issue: 3
  • Publication Date: 2011
  • Doi Number: 10.1378/chest.10-2865
  • Title of Journal : CHEST
  • Page Numbers: pp.753-763

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.