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

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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 adeny...

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

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