Ontology highlight
ABSTRACT:
SUBMITTER: Devlin LA
PROVIDER: S-EPMC6986751 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Devlin L A LA Ramsbottom S A SA Overman L M LM Lisgo S N SN Clowry G G Molinari E E Powell L L Miles C G CG Sayer J A JA
PloS one 20200128 1
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive cystic kidney disease and other clinical manifestations. Mutations in centrosomal protein 164 kDa (CEP164), also known as NPHP15, have been identified as a cause of NPHP-RC. Here we have utilised the MRC-Wellcome Trust Human Developmental Biology Resource (HDBR) to perform immunohistochemistr ...[more]