AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.

Abstract excerpt

OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) type 1 is caused by mutations in the gene encoding the calcium-sensing receptor (CASR). Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients. Similarly, mutations in the gene GNA11 have been shown to cause FHH type 2. We hypothesized that mutations in AP2S1 and GNA11 are...

Topics

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

• Share to Adaptor Protein Complex 2
• Share to Aged
• Share to Aged, 80 and over