Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5

Circulation Journal

Volumn 77, Issue 4, 2013, Pages 959-967

  Ishikawa, Taisuke ^a   Takahashi, Naohiko ^b   Ohno, Seiko ^c   Sakurada, Harumizu ^d   Nakamura, Kazufumi ^e   On, Young Keun ^h   Park, Jeong Euy ^h   Makiyama, Takeru ^f   Horie, Minoru ^c   Arimura, Takuro ^a   Makita, Naomasa ^g   Kimura, Akinori ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b OITA UNIVERSITY   (Japan)

^c SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^d TOKYO METROPOLITAN HIROO HOSPITAL   (Japan)

^e OKAYAMA UNIVERSITY   (Japan)

^f KYOTO UNIVERSITY   (Japan)

^g NAGASAKI UNIVERSITY   (Japan)

^h Samsung Medical Center   (South Korea)

Author keywords

Brugada syndrome; Electrophysiologic study; Genetics; Ion channels; Sodium

Indexed keywords

SODIUM CHANNEL NAV1.5; VOLTAGE GATED SODIUM CHANNEL BETA 3 SUBUNIT;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BRUGADA SYNDROME; CELL MIGRATION; CHILD; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOPRECIPITATION; LASER MICROSCOPY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATCH CLAMP; POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BRUGADA SYNDROME; CELL LINE; CHILD; FEMALE; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION, MISSENSE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PROTEIN TRANSPORT; VOLTAGE-GATED SODIUM CHANNEL BETA-3 SUBUNIT;

EID: 84875511989     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-12-0995     Document Type: Article

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