A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F21%3A10429632" target="_blank" >RIV/00669806:_____/21:10429632 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11140/21:10429632
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=G6Wcq2cGEe" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=G6Wcq2cGEe</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/08037051.2021.1942785" target="_blank" >10.1080/08037051.2021.1942785</a>
Alternative languages
Result language
angličtina
Original language name
A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome
Original language description
Liddle syndrome is a hereditary form of arterial hypertension caused by mutations in the genes encoding the epithelial sodium channel's α-, β- and γ-subunit. It is usually manifested by early onset of hypertension accompanied by low potassium and aldosterone levels. We performed a physical examination, laboratory tests and genetic screening in 13 members of a Czech family. We found a new mutation of the SCNN1B gene which encodes the β-subunit of the epithelial sodium channel. We describe the variability of each family member phenotype and point out the relevance of using aldosterone levels as a high sensitivity marker of Liddle syndrome in Caucasians.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
<a href="/en/project/EF16_019%2F0000787" target="_blank" >EF16_019/0000787: Fighting INfectious Diseases</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Blood Pressure
ISSN
0803-7051
e-ISSN
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Volume of the periodical
30
Issue of the periodical within the volume
5
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
291-299
UT code for WoS article
000669795800001
EID of the result in the Scopus database
2-s2.0-85109645941