Integrative Genomic and Transcriptomic Analysis Reveals Hypothesis-Generating Candidate Genes for Nephrolithiasis Susceptibility in Primary Hyperoxaluria.
AIM Primary hyperoxaluria (PH) represents a rare genetic disorder characterised by incompletely elucidated causative genes and limited therapeutic options. This study aims to identify PH-associated genetic variants and potential drug targets. METHODS We performed exon sequencing of eight PH patients to find PH-relate...