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Article

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.

Journal of human genetics - 1 Jan 2001

Hirai H, Nakajima S, Miyauchi A, Nishimura K, Shimizu N, Shima M, Michigami T, Ozono K, Okada S

Abstract excerpt

Autosomal dominant hypocalcemia can be caused by activating mutations of the calcium-sensing receptor (CaSR) gene. We experienced two patients (proband and her daughter) with hypocalcemia caused by a missense mutation of the CaSR gene. The proband, aged 25, showed hypocalcemia and hypoparathyroid...

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Source

Identifiers

PMID: 11289719
DOI: 10.1007/s100380170124

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11289719-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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