Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) i...

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Bibliografski detalji
Izdano u:Am J Hum Genet
Glavni autori: Cornec-Le Gall, Emilie, Olson, Rory J., Besse, Whitney, Heyer, Christina M., Gainullin, Vladimir G., Smith, Jessica M., Audrézet, Marie-Pierre, Hopp, Katharina, Porath, Binu, Shi, Beili, Baheti, Saurabh, Senum, Sarah R., Arroyo, Jennifer, Madsen, Charles D., Férec, Claude, Joly, Dominique, Jouret, François, Fikri-Benbrahim, Oussamah, Charasse, Christophe, Coulibaly, Jean-Marie, Yu, Alan S., Khalili, Korosh, Pei, York, Somlo, Stefan, Le Meur, Yannick, Torres, Vicente E., Harris, Peter C.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2018
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5986722/
https://ncbi.nlm.nih.gov/pubmed/29706351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.03.013
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