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Article

A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.

Endocrine - 1 Aug 2001

Nakayama T, Minato M, Nakagawa M, Soma M, Tobe H, Aoi N, Kosuge K, Sato M, Ozawa Y, Kanmatsuse K, Kokubun S

Abstract excerpt

Missense mutations in the calcium-sensing receptor (CaSR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism. We identified a newborn with hypercalcemia in our hospital by mass screening. The family members were studied, and we found a novel CaSR missense mutation with polymerase chain reaction single-strand conformational...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Restriction Fragment Length

Share to Polymorphism, Single-Stranded Conformational

Share to Receptors, Calcium-Sensing

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Source

Identifiers

PMID: 11762699
DOI: 10.1385/ENDO:15:3:277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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