Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia With a Bartter-Like Syndrome

Journal of the American Society of Nephrology : JASN - United States
doi 10.1097/01.asn.0000025781.16723.68
Full Text
Abstract

Available in full text

Date
Authors
Publisher

American Society of Nephrology (ASN)

Related search

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports
OncologyGeneticsMolecular BiologyBiochemistryCancer ResearchMolecular Medicine
2017English

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

Diabetes
Internal MedicineEndocrinologyMetabolismDiabetes
2013English

Four Cases of Autosomal Dominant Hypocalcaemia With Hypercalciuria Including Two With Novel Mutations in the Calcium-Sensing Receptor Gene

Annals of Clinical Biochemistry
MedicineClinical Biochemistry
2011English

Bartter Syndrome-Like Phenotype in a Patient With Diabetes: A Case Report

Journal of Medical Case Reports
Medicine
2018English

A Case of Autosomal Dominant Osteopetrosis Type II With a CLCN7 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology
Child HealthEndocrinologyPerinatologyPediatricsMetabolismDiabetes
2019English

Effect of Parathyroid Hormone Administration in a Patient With Severe Hypoparathyroidism Caused by Gain-Of-Function Mutation of Calcium-Sensing Receptor

Endocrine Journal
EndocrinologyMetabolismDiabetes
2006English

P.070 Autosomal Dominant MARS Mutation Linked to Severe Early Onset CMT2U

Canadian Journal of Neurological Sciences
MedicineNeurology
2018English

Autosomal Dominant Robinow Syndrome

2020English

P10.01: Bartter Syndrome: A Rare Cause of Refractory Severe Polyhydramnios

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2017English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy