Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

doi:10.1016/0092-8674(93)90617-y

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Article

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Cell - 31 Dec 1993

Pollak M R, Brown E M, Chou Y H, Hebert S C, Marx S J, Steinmann B, Levi T, Seidman C E, Seidman J G

Abstract excerpt

We demonstrate that mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), two inherited conditions characterized by altered calcium homeostasis. The Ca(2+)-sensing receptor belongs to the superfamily of seven membrane-spanning G protein-coupled receptors. Three nonconservative missense mutations are reported: two occur...

Topics

Amino Acid Sequence
Base Sequence
Calcium
Cloning, Molecular
DNA Primers
Gene Expression
Genes
Humans
Hypercalcemia
Hyperparathyroidism
Membrane Glycoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

RNA, Messenger

Receptors, Calcium-Sensing

Receptors, Cell Surface

Sequence Alignment

Source

Open in PubMed

Identifiers

PMID: 7916660
DOI: 10.1016/0092-8674(93)90617-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7916660-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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