Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.

doi:10.1210/jcem.87.4.8300

Article

Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.

The Journal of clinical endocrinology and metabolism - 1 Apr 2002

Reed Berenice Y, Gitomer William L, Heller Howard J, Hsu Ming Chue, Lemke Martha, Padalino Paulette, Pak Charles Y C

Abstract excerpt

Absorptive hypercalciuria (AH) is a kidney stone-forming condition frequently complicated by bone loss. Previously, we mapped the locus for an inherited form of AH to chromosome 1q23.3-q24. We have sequenced a putative gene (subsequently shown by others to be homologous with the rat soluble adenylate cyclase gene) in this region in 12 unrelated Caucasian AH patients. Eighteen base substitutions were identified in...

Read the complete abstract on PubMed

Topics

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

Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density.

Abstract excerpt

Topics

Related research