Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Mutation of the Calcium Sensing Receptor Gene in a Franconian Kindred: Heterozygous Mutation c.1697_1698delTG Exon 6.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Feb 2017

Cordes M, Kuwert T, Haag C, Raue F

Abstract excerpt

Familial hypocalciuric hypercalcemia (FHH) belongs to the disorders of a disturbed calcium homeostasis. Genetically, the disorder is inherited in an autosomal-dominant trait and represents an inactivating mutation of the calcium sensing receptor (CaSR) gene. We identified a Franconian kindred in which 6 individuals could be tested by molecular genetic means. In 5 individuals of 3 generations, the mutation could...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germany

Share to Heterozygote

Share to Pedigree

Share to Receptors, Calcium-Sensing

Share to RNA Splice Sites

Source

Identifiers

PMID: 27926951
DOI: 10.1055/s-0042-120415

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Mutation of the Calcium Sensing Receptor Gene in a Franconian Kindred: Heterozygous Mutation c.1697_1698delTG Exon 6.PMID 27926951Read ↗

A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.Semantic proximity Read ↗

[Familial hypocalciuric hypercalcemia: a new mutation].Semantic proximity Read ↗

A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.Semantic proximity Read ↗

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.Semantic proximity Read ↗

Two novel mutations causing familial benign hypocalciuric hypercalcaemia in three Scottish families.Semantic proximity Read ↗

Rare diseases caused by abnormal calcium sensing and signalling.Semantic proximity Read ↗

Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.Semantic proximity Read ↗

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.Semantic proximity Read ↗

Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutationSemantic proximity Read ↗

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).Semantic proximity Read ↗

A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.