Functional defect of three novel SCN5A mutations in patients with Brugada syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F06%3A00018552" target="_blank" >RIV/00216224:14110/06:00018552 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Functional defect of three novel SCN5A mutations in patients with Brugada syndrome
Original language description
Three new heterozygous mutations were detected in patients with Brugada syndrome in SCN5A gene coding the alpha-subunit of sodium channel, two of them frameshift mutations with complete loss of function and one missense mutation with decreased sodium current and impaired inactivation gating.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
ED - Physiology
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2006
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů