ADPKD
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.
A novel nonsense mutation in the <span class="gene" id="7581371-0-33-37">PKD1</span> gene (C3817T) is associated with <span class="disease" id="7581371-0-71-115">autosomal dominant polycystic kidney disease</span> (<span class="disease" id="7581371-0-117-122">ADPKD</span>) in a large three-generation Italian family.