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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Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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