VOLDERS, Paul, Markéta BÉBAROVÁ, Roselie JONGBLOED, Jan GEELEN, Carl TIMMERMANS, Yvonne ARENS and Luz-Maria RODRIGUEZ. Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome. In Eur Heart J. 2006. ISSN 0195-668X.
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Basic information
Original name Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome
Name in Czech Klinické, genetické a biofyzikální charakteristiky tří nových muací v genu SCN5A u pacientů s Brugadovým syndromem
Authors VOLDERS, Paul (528 Netherlands), Markéta BÉBAROVÁ (203 Czech Republic, guarantor, belonging to the institution), Roselie JONGBLOED (528 Netherlands), Jan GEELEN (528 Netherlands), Carl TIMMERMANS (528 Netherlands), Yvonne ARENS (528 Netherlands) and Luz-Maria RODRIGUEZ (528 Netherlands).
Edition Eur Heart J, 2006.
Other information
Original language English
Type of outcome Conference abstract
Field of Study 30201 Cardiac and Cardiovascular systems
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 7.286
RIV identification code RIV/00216224:14110/06:00018554
Organization unit Faculty of Medicine
ISSN 0195-668X
UT WoS 000240668404102
Keywords in English SCN5A;Brugada syndrome;electrophysiology;mutation
Tags Brugada syndrome, Electrophysiology, Mutation, SCN5A
Tags International impact, Reviewed
Changed by Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 22/4/2011 13:59.
Abstract
Three new SCN5A mutations were detected in patients with Brugada syndrome, two of them frameshift mutations with complete loss of function and one missense mutation with decreased function and impaired inactivation gating.
Abstract (in Czech)
Tři nové mutace byly detekovány v genu SCN5A u pacientů s Brugadovým syndromem, dvě posunové mutace s úplnou ztrátou funkce a jedna bodová mutace se s sníženou funkcí a narušeným inaktivačním vrátkováním.
Links
MSM0021622402, plan (intention)Name: Časná diagnostika a léčba kardiovaskulárních chorob
Investor: Ministry of Education, Youth and Sports of the CR, Early diagnostics and treatment of cardiovascular diseases
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