Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History

BACKGROUND: At the University of Colorado Health Sciences Center, approximately 10% of patients with autosomal dominant polycystic kidney disease (ADPKD) on detailed questioning gave no family history of ADPKD. There are several explanations for this observation including occurrence of a de novo pat...

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Detalhes bibliográficos
Main Authors: Reed, Berenice, McFann, Kim, Kimberling, William J., Pei, York, Gabow, Patricia A., Christopher, Karen, Petersen, Eric, Kelleher, Catherine, Fain, Pamela R., Johnson, Ann, Schrier, Robert W.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598385/
https://ncbi.nlm.nih.gov/pubmed/18640754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.ajkd.2008.05.015
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