Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening

Idiopathic pulmonary fibrosis (IPF) is an age-related disease featuring progressive lung scarring. To elucidate the molecular basis of IPF, we performed exome sequencing of familial pulmonary fibrosis kindreds. Gene burden analysis comparing 78 European cases and 2,816 controls implicated PARN, an e...

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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Stuart, Bridget D., Choi, Jungmin, Zaidi, Samir, Xing, Chao, Holohan, Brody, Chen, Rui, Choi, Mihwa, Dharwadkar, Pooja, Torres, Fernando, Girod, Carlos E., Weissler, Jonathan, Fitzgerald, John, Kershaw, Corey, Klesney-Tait, Julia, Mageto, Yolanda, Shay, Jerry W., Ji, Weizhen, Bilguvar, Kaya, Mane, Shrikant, Lifton, Richard P., Garcia, Christine Kim
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4414891/
https://ncbi.nlm.nih.gov/pubmed/25848748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3278
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