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Article

Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.

Molecular and cellular endocrinology - 15 May 2015

Baran Natalia, ter Braak Michael, Saffrich Rainer, Woelfle Joachim, Schmitz Udo

Abstract excerpt

INTRODUCTION: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium sensing receptor gene (CaR) and characterised by mostly asymptomatic mild to moderate hypocalcaemia with low, inappropriately serum concentration of PTH. OBJECTIVE: The purpose of the present study was to biochemically and functionally characterise a novel mutation of CaR. PATIENTS: A female proband presenting...

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Source

Identifiers

PMID: 25766501
DOI: 10.1016/j.mce.2015.02.021

Genes

PTH

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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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