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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&apos;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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • 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

  • 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