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Article

[Familial hypoparathyroidism due to activating mutations in the calcium-sensing receptor gene].

Nihon rinsho. Japanese journal of clinical medicine - 1 Feb 2002

Watanabe Tomoyuki, Minagawa Masanori

Abstract excerpt

The cloning of the extracellular calcium-sensing receptor(CaSR) has helped to define a key component in the control of the calcium homeostasis. Gain-of-function mutations in the CaSR gene were identified as the cause of autosomal dominant hypocalcemia (ADH). This clinical condition is compatible with hypoparathyroidism because of low PTH levels compared with serum calcium levels. Until now, 21 missense mutations...

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Identifiers

PMID: 11857922

Genes

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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