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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Bibliographische Detailangaben
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American College of Chest Physicians 2014
Schlagworte:
Selected Reports
Online Zugang: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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