scholarly journals Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

1996 ◽  
Vol 97 (7) ◽  
pp. 1780-1784 ◽  
Author(s):  
H Tamura ◽  
L Schild ◽  
N Enomoto ◽  
N Matsui ◽  
F Marumo ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Channel Gene ◽  
Sodium Channel Gene

scholarly journals Liddle’s syndrome in an African male due to a novel frameshift mutation in the beta-subunit of the epithelial sodium channel gene

2017 ◽  
Vol 28 (5) ◽  
pp. e4-e6 ◽  
Author(s):  
Robert Freercks ◽  
Surita Meldau ◽  
Erika Jones ◽  
Jason Ensor ◽  
Clarise Weimers-Willard ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Channel Gene ◽  
Sodium Channel Gene ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals Acute Regulation of the Epithelial Sodium Channel Gene by Vasopressin and Hyperosmolality

2003 ◽  
Vol 26 (8) ◽  
pp. 629-634 ◽  
Author(s):  
Kenji MACHIDA ◽  
Hiroshi NONOGUCHI ◽  
Shiho WAKAMATSU ◽  
Hideki INOUE ◽  
Tatjana YOSIFOVSKA ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Channel Gene ◽  
Sodium Channel Gene

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

2009 ◽  
Vol 31 (10) ◽  
pp. 758-762 ◽  
Author(s):  
Xiuyu Shi ◽  
Sawa Yasumoto ◽  
Eiji Nakagawa ◽  
Tatsuya Fukasawa ◽  
Satoshi Uchiya ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Dravet Syndrome ◽  
Channel Gene ◽  
Sodium Channel Gene

scholarly journals Steroid Effects on Renal Epithelial Sodium Channel Gene Expression † 276

1998 ◽  
Vol 43 ◽  
pp. 50-50
Author(s):  
Hans D Katzberg ◽  
Samir R Malhotra ◽  
Vugranam C Venkatesh
Keyword(s):  
Gene Expression ◽  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Channel Gene ◽  
Sodium Channel Gene

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

2013 ◽  
Vol 162 (1) ◽  
pp. 166-170 ◽  
Author(s):  
Linggen Gao ◽  
Linping Wang ◽  
Yaxin Liu ◽  
Xianliang Zhou ◽  
Rutai Hui ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Liddle Syndrome ◽  
Py Motif
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