Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q37395151

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Hypercalcemic Disorders in Children.

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

http://www.wikidata.org/entity/Q37395151

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 18 April 2016

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vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Identification and Functional ...... l Hypocalciuric Hypercalcemia.

@en

Identification and Functional ...... l Hypocalciuric Hypercalcemia.

@nl

type

label

Identification and Functional ...... l Hypocalciuric Hypercalcemia.

@en

Identification and Functional ...... l Hypocalciuric Hypercalcemia.

@nl

prefLabel

Identification and Functional ...... l Hypocalciuric Hypercalcemia.

@en

Identification and Functional ...... l Hypocalciuric Hypercalcemia.

@nl

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Journal of clinical research in pediatric endocrinology

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Identification and Functional ...... l Hypocalciuric Hypercalcemia.

@en

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Anastasios Papadimitriou

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Anna Papadopoulou

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Christos Meristoudis

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Evangelia Gole

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Katerina Melachroinou

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Tania Siahanidou

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P2860

Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs

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

Cloning and functional expression of a rat kidney extracellular calcium/polyvalent cation-sensing receptor

Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

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

Recurrent pancreatitis in a patient with familial hypocalciuric hypercalcaemia treated successfully with cinacalcet.

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

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.

The calcium-sensing receptor and related diseases.

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341-346

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scholarly article

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10.4274/JCRPE.2800

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3

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8

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2016-04-18T00:00:00Z

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27087013

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5096500

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