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Article

Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.

Biochemical and biophysical research communications - 14 Apr 2006

Leech Colin, Lohse Peter, Stanojevic Violeta, Lechner Andreas, Göke Burkhard, Spitzweg Christine

Abstract excerpt

In this study, we describe a 52-year-old woman, who was diagnosed with familial benign hypocalciuric hypercalcemia (FBHH), a condition characterized by hypercalcemia, low urinary calcium excretion, and normal parathyroid hormone PTH levels, resulting from inactivating mutations of the calcium-sensing receptor (CaSR). In order to identify and characterize the underlying mutation in the CASR gene, direct sequence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16598859
DOI: 10.1016/j.bbrc.2006.02.018

Genes

CASR
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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