Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

Chronic obstructive pulmonary disease and pulmonary fibrosis have been hypothesized to represent premature aging phenotypes. At times, they cluster in families, but the genetic basis is not understood. We identified rare, frameshift mutations in the gene for nuclear assembly factor 1, NAF1, a box H/...

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Bibliographic Details
Published in:Sci Transl Med
Main Authors: Stanley, Susan E., Gable, Dustin L., Wagner, Christa L., Carlile, Thomas M., Hanumanthu, Vidya Sagar, Podlevsky, Joshua D., Khalil, Sara E., DeZern, Amy E., Rojas-Duran, Maria F., Applegate, Carolyn D., Alder, Jonathan K., Parry, Erin M., Gilbert, Wendy V., Armanios, Mary
Format: Artigo
Language:Inglês
Published: 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5351811/
https://ncbi.nlm.nih.gov/pubmed/27510903
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aaf7837
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