Ontology highlight
ABSTRACT:
SUBMITTER: Nettuwakul C
PROVIDER: S-EPMC7314804 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Nettuwakul Choochai C Sawasdee Nunghathai N Praditsap Oranud O Rungroj Nanyawan N Pasena Arnat A Dechtawewat Thanyaporn T Deejai Nipaporn N Sritippayawan Suchai S Rojsatapong Santi S Chaowagul Wipada W Yenchitsomanus Pa-Thai PT
Scientific reports 20200624 1
Kidney stone disease (KSD) is a prevalent disorder that causes human morbidity worldwide. The etiology of KSD is heterogeneous, ranging from monogenic defect to complex interaction between genetic and environmental factors. Since mutations of genes responsible for KSD in a majority of families are still unknown, our group is identifying mutations of these genes by means of genomic and genetic analyses. In this study, we identified a novel loss-of-function mutation of PBK, encoding the PDZ bindin ...[more]