A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel-Reference-Cited by-同舟云学术

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A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel

Published:2013-01 Issue:1 Volume:162 Page:166-170
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Gao Linggen,Wang Linping,Liu Yaxin,Zhou Xianliang,Hui Rutai,Hu Aihua

Funder

Ministry of Science and Technology of the People's Republic of China

China Postdoctoral Science Foundation

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference27 articles.

1. Brief report. Liddle's syndrome revisited: a disorder of sodium reabsorption in the distal tubule;Botero-Velez;N Engl J Med,1994

2. Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit;Rossi;J Hypertens,2008

3. Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits;Canessa;Nature,1994

4. Biochemical analysis of the membrane topology of the amiloride-sensitive Na+ channel;Renard;J Biol Chem,1994

5. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel;Shimkets;Cell,1994

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1. Clinical Features and Mutations in Children with Liddle Syndrome: A Systematic Review of Case Reports;Indian Pediatrics Case Reports;2024-01

2. SCNN1B regulates the proliferation, migration, and collagen deposition of human lung fibroblasts;In Vitro Cellular & Developmental Biology - Animal;2023-07-21

3. Pathophysiologic approach in genetic hypokalemia: An update;Annales d'Endocrinologie;2023-04

4. Hypokalemia and hypertensive urgency in a 10-year-old boy: Answers;Pediatric Nephrology;2021-04-06

5. Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension;American Journal of Hypertension;2020-03-12

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