Ontology highlight
ABSTRACT:
SUBMITTER: Zipfel PF
PROVIDER: S-EPMC7003313 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Zipfel Peter F PF Wiech Thorsten T Stea Emma D ED Skerka Christine C
Journal of the American Society of Nephrology : JASN 20200124 2
Sequence and copy number variations in the human <i>CFHR-Factor H</i> gene cluster comprising the complement genes <i>CFHR1</i>, <i>CFHR2</i>, <i>CFHR3</i>, <i>CFHR4</i>, <i>CFHR5</i>, and <i>Factor H</i> are linked to the human kidney diseases atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy. Distinct genetic and chromosomal alterations, deletions, or duplications generate hybrid or mutant <i>CFHR</i> genes, as well as hybrid <i>CFHR-Factor H</i> genes, and alter the FHR and Fact ...[more]