(Q40773430)

English

An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

scientific article

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism (English)

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

hyperparathyroidism

1 reference

based on heuristic

inferred from title

familial hypocalciuric hypercalcemia

1 reference

based on heuristic

inferred from title

author name string

D'Souza-Li L

1

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

Canaff L

2

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

Janicic N

3

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

Cole DE

4

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

Hendy GN

5

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

publication date

1 November 2001

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

18

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

411-421

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Extracellular calcium-sensing receptor is expressed in rat hepatocytes. coupling to intracellular calcium mobilization and stimulation of bile flow

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

The calcium sensing receptor and its alternatively spliced form in keratinocyte differentiation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Expression of the parathyroid Ca(2+)-sensing receptor in cytotrophoblasts from human term placenta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

NEONATAL FAMILIAL PRIMARY HYPERPARATHYROIDISM

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1212

21 January 2018

Identifiers

10.1002/HUMU.1212

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

23 September 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q40773430&oldid=1906959868"