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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414891/
https://www.ncbi.nlm.nih.gov/pubmed/25848748
http://dx.doi.org/10.1038/ng.3278

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