Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) often results in ESRD but with a highly variable course. Mutations to PKD1 or PKD2 cause ADPKD; both loci have high levels of allelic heterogeneity. We evaluated genotype-phenotype correlations in 1119 patients (945 families) from the HALT Progres...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Heyer, Christina M., Sundsbak, Jamie L., Abebe, Kaleab Z., Chapman, Arlene B., Torres, Vicente E., Grantham, Jared J., Bae, Kyongtae T., Schrier, Robert W., Perrone, Ronald D., Braun, William E., Steinman, Theodore I., Mrug, Michal, Yu, Alan S.L., Brosnahan, Godela, Hopp, Katharina, Irazabal, Maria V., Bennett, William M., Flessner, Michael F., Moore, Charity G., Landsittel, Douglas, Harris, Peter C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2016
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004648/
https://ncbi.nlm.nih.gov/pubmed/26823553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015050583
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