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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發表在: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.
格式: Artigo
語言:Inglês
出版: American Society of Nephrology 2016
主題:
Clinical Research
在線閱讀: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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