Autosomal recessive Andersen-Tawil syndrome with a novel mutation L94P in Kir2.1

Neurology and Clinical Neuroscience

Volumn 1, Issue 4, 2013, Pages 131-137

  Takeda, Ikuko ^a   Takahashi, Tetsuya ^a   Ueno, Hiroki ^a   Morino, Hiroyuki ^a   Ochi, Kazuhide ^a   Nakamura, Takeshi ^a   Hosomi, Naohisa ^a   Kawakami, Hideshi ^a   Hashimoto, Kouichi ^a   Matsumoto, Masayasu ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

Author keywords

Andersen Tawil syndrome; Autosomal recessive; KCNJ2; Kir2.1; Patch clamp

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1;

ADULT; ANDERSEN SYNDROME; ANIMAL CELL; ARTICLE; CASE REPORT; CONFOCAL MICROSCOPY; COPY NUMBER VARIATION; ELECTROCARDIOGRAPHY; ELECTROPHYSIOLOGY; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MISSENSE MUTATION; NERVE CONDUCTION; NONHUMAN; PARALYSIS; POLYMERASE CHAIN REACTION; POTASSIUM CURRENT; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SEQUENCE ALIGNMENT;

EID: 84888005453     PISSN: None     EISSN: 20494173     Source Type: Journal    
DOI: 10.1111/ncn3.38     Document Type: Article

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