Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism-Reference-Cited by-同舟云学术

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Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism

Published:2005-05 Issue:5 Volume:62 Page:547-553
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Edelheit Oded,Hanukoglu Israel,Gizewska Maria,Kandemir Nurgun,Tenenbaum-Rakover Yardena,Yurdakok Murat,Zajaczek Stanislaw,Hanukoglu Aaron

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2005.02255.x/fullpdf

Reference18 articles.

1. Type I Pseudohypoaldosteronism Includes Two Clinically and Genetically Distinct Entities with either Renal or Multiple Target Organ Defects

2. Mineralocorticoid resistance

3. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

4. A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

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2. Primary Ciliary Dyskinesia and Other Genetic Lung Diseases;Pediatric Pulmonology;2023-11-17

3. A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene;American Journal of Physiology-Endocrinology and Metabolism;2023-07-01

4. Probing the Ubiquitination-Mediated Function of Epithelial Sodium Channel in A549 Cells;Current Molecular Pharmacology;2023-06

5. The Epithelial Sodium Channel—An Underestimated Drug Target;International Journal of Molecular Sciences;2023-04-24

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