A Novel Dyskerin (DKC1) Mutation Is Associated With Familial Interstitial Pneumonia

Short telomeres are frequently identified in patients with idiopathic pulmonary fibrosis (IPF) and its inherited form, familial interstitial pneumonia (FIP). We identified a kindred with FIP with short telomeres who did not carry a mutation in known FIP genes TERT or hTR. We performed targeted seque...

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Detalhes bibliográficos
Main Authors: Kropski, Jonathan A., Mitchell, Daphne B., Markin, Cheryl, Polosukhin, Vasiliy V., Choi, Leena, Johnson, Joyce E., Lawson, William E., Phillips, John A., Cogan, Joy D., Blackwell, Timothy S., Loyd, James E.
Formato: Artigo
Idioma:Inglês
Publicado em: American College of Chest Physicians 2014
Assuntos:
Selected Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4077414/
https://ncbi.nlm.nih.gov/pubmed/24504062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1378/chest.13-2224
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