A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: Standard and dynamic characterization

Cardiovascular Research

Volumn 91, Issue 4, 2011, Pages 606-616

  Marangoni, Stefano ^a   Di Resta, Chiara ^b   Rocchetti, Marcella ^a   Barile, Lucio ^a   Rizzetto, Riccardo ^a   Summa, Aurora ^c   Severi, Stefano ^c   Sommariva, Elena ^b   Pappone, Carlo ^d   Ferrari, Maurizio ^b,e,f   Benedetti, Sara ^e   Zaza, Antonio ^a  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d MARIA CECILIA HOSPITAL   (Italy)

^e Diagnostica e Ricerca San Raffaele   (Italy)

^f VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

Brugada syndrome; Dynamic voltage clamp; Modelling; p.S216L mutation; SCN5A

Indexed keywords

SODIUM CHANNEL;

ARTICLE; BRUGADA SYNDROME; CASE REPORT; CHANNEL GATING; CHILD; DNA POLYMORPHISM; GENE MUTATION; HEART REPOLARIZATION; HUMAN; LONG QT SYNDROME; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; SCHOOL CHILD; SODIUM CURRENT;

ADULT; BRUGADA SYNDROME; CHILD; ELECTROCARDIOGRAPHY; FEMALE; HUMANS; LONG QT SYNDROME; MALE; MUTATION; PATCH-CLAMP TECHNIQUES; PHENOTYPE; POLYMORPHISM, GENETIC; SODIUM CHANNELS;

EID: 80051971298     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvr142     Document Type: Article

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