Open AccessNovel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome
Author(s) -
Tadashi Nakajima,
Reika KawabataIwakawa,
Shuntaro Tamura,
Hiroshi Hasegawa,
Takashi Kobari,
Hideki Itoh,
Minoru Horie,
Masahiko Nishiyama,
Masahiko Kurabayashi,
Yoshiaki Kaneko,
Hideki Ishii
Publication year - 2022
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0271796
Subject(s) - sanger sequencing , mutation , linker , microbiology and biotechnology , proband , long qt syndrome , patch clamp , genetics , biology , medicine , gene , qt interval , receptor , computer science , operating system
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