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., ...Daha Fazla

CHEST, cilt.140, sa.3, ss.753-763, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 140 Konu: 3
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1378/chest.10-2865
  • Dergi Adı: CHEST
  • Sayfa Sayıları: ss.753-763


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.