Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, Steinman TI, Mrug M, Yu AS, Brosnahan G, Hopp K, Irazabal MV, Bennett WM, Flessner MF, Moore CG, Landsittel D, Harris PC; HALT PKD and CRISP Investigators.
Heyer CM, et al.
J Am Soc Nephrol. 2016 Sep;27(9):2872-84. doi: 10.1681/ASN.2015050583. Epub 2016 Jan 28.
J Am Soc Nephrol. 2016.
PMID: 26823553
Free PMC article.