RT Journal Article
SR Electronic
A1 Mosley, Mary
T1 Single-Gene Defects Elucidate Mechanisms of CKD
JF MD Conference Express
YR 2015
FD SAGE Publications
VO 14
IS 49
SP 6
OP 7
DO 10.1177/155989771449002
UL http://mdc.sagepub.com/content/14/49/6.abstract
AB This article discusses single-gene (monogenic) mutations that cause steroid-resistant nephrotic syndrome, polycystic kidney disease, cystic kidney disease, early-onset chronic kidney disease, as well as new monogenic disease genes and pathogenic pathways.