A case of novel mutation of Cullin 3 gene in pseudohypoaldosteronism type II.

Abstract excerpt

Pseudohypoaldosteronism type II (PHA II) is a rare inherited disease characterized by hypertension, hyperkalemia and metabolic acidosis. With the development of gene sequencing technology, more genetic mutations underlying PHA II were reported and the understanding of its pathogenesis has gone deep into the molecular level. Here, we present a juvenile case of PHA II. A novel missense mutation (c.1376 A>T) located...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cullin Proteins
• Share to Exons
• Share to Mutation