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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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.
格式: Artigo
語言:Inglês
出版: American College of Chest Physicians 2014
主題:
Selected Reports
在線閱讀: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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