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Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is the most common of short telomere phenotypes. Familial clustering of IPF is common, but the genetic basis remains unknown in more than one-half of cases. We identified a 65-year-old man with familial IPF, short telomere length, and low telomerase RN...

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Publicat a:Chest
Autors principals: Gaysinskaya, Valeriya, Stanley, Susan E., Adam, Soheir, Armanios, Mary
Format: Artigo
Idioma:Inglês
Publicat: American College of Chest Physicians 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7768939/
https://ncbi.nlm.nih.gov/pubmed/32710892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.chest.2020.07.025
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