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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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Publicat a:Sci Transl Med
Autors principals: 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
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia: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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