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Article

Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia.

Molecular genetics and metabolism - 1 Dec 2000

Conley Y P, Finegold D N, Peters D G, Cook J S, Oppenheim D S, Ferrell R E

Abstract excerpt

We report three novel activating mutations in the calcium-sensing receptor (CASR) that are responsible for autosomal dominant hypocalcemia (ADH) in three unrelated families. Each mutation involves a missense substitution resulting in a nonconservative amino acid alteration, P221L, E228Q, and Q245R. These mutations were observed in affected family members, but not in unaffected family members or in unrelated...

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Source

Identifiers

PMID: 11136551
DOI: 10.1006/mgme.2000.3096

Genes

CASR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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