Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (Q24671771)

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English	Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia	scientific article

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instance of

scholarly article

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title

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia (English)

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main subject

familial hypocalciuric hypercalcemia

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based on heuristic

inferred from title

hypercalcemia

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based on heuristic

inferred from title

author

Jonathan G Seidman

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10

object named as

J G Seidman

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Maria Luisa Brandi

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3

object named as

M L Brandi

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author name string

Y H Chou

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1

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M R Pollak

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2

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G Toss

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4

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H Arnqvist

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5

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A B Atkinson

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6

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S E Papapoulos

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7

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S Marx

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8

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E M Brown

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9

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language of work or name

English

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publication date

May 1995

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published in

American Journal of Human Genetics

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volume

56

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issue

5

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page(s)

1075-9

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cites work

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

7 April 2017

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

7 April 2017

Sequence and expression of a metabotropic glutamate receptor

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

7 April 2017

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

28 September 2017

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

28 September 2017

Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

28 September 2017

A second-generation linkage map of the human genome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

28 September 2017

Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man.

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

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28 September 2017

Familial benign hypercalcaemia. Study of a large family

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

30 May 2018

Detection of point mutations associated with genetic diseases by an exon scanning technique

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801464

retrieved

30 May 2018

Family studies in patients with primary parathyroid hyperplasia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7726161

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7726161

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7726161

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7726161

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7726161

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7726161

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1801464

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PubMed publication ID

7726161

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