An x-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Human Molecular Genetics

Volumn 21, Issue 20, 2012, Pages 4497-4507

  Takano, Kyoko ^a,e   Liu, Dan ^b   Tarpey, Patrick ^c   Gallant, Esther ^b   Lam, Alex ^b   Witham, Shawn ^d   Alexov, Emil ^d   Chaubey, Alka ^a   Stevenson, Roger E ^a   Schwartz, Charles E ^a   Board, Philip G ^b   Dulhunty, Angela F ^b  

^a GREENWOOD GENETIC CENTER   (United States)

^b Biology and Environment   (Australia)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d CLEMSON UNIVERSITY   (United States)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; RYANODINE RECEPTOR; RYANODINE RECEPTOR 2;

ARTICLE; CALCIUM SIGNALING; CALCIUM TRANSPORT; CARDIOMEGALY; CHANNELOPATHY; CHLORIDE INTRACELLULAR CHANNEL 2 GENE; CHROMOSOME ANALYSIS; COGNITION; CONGESTIVE HEART FAILURE; EXOME; FOLLOW UP; GENE; GENE MUTATION; HEART ATRIUM FIBRILLATION; HEART FUNCTION; HEART MUSCLE CELL; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MUSCLE CELL; NERVE CELL; NEUROTRANSMITTER RELEASE; NONHUMAN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEIZURE; SPECTROSCOPY; X CHROMOSOME;

AMINO ACID SEQUENCE; CALCIUM; CARDIOMEGALY; CHANNELOPATHIES; CHLORIDE CHANNELS; FAMILY; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYOCYTES, CARDIAC; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 84867115345     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds292     Document Type: Article

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