Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

Journal of Physiology

Volumn 590, Issue 15, 2012, Pages 3449-3464

  Weinberger, Sebastian ^a   Wojciechowski, Daniel ^a   Sternberg, Damien ^b   Lehmann Horn, Frank ^c   Jurkat Rott, Karin ^c   Becher, Toni ^a   Begemann, Birgit ^a   Fahlke, Christoph ^a   Fischer, Martin ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE CHANNEL 1; CYSTEINE; TYROSINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; C277R GENE; C277Y GENE; CHANNEL GATING; CHLORIDE CONDUCTANCE; CLINICAL ARTICLE; DNA MODIFICATION; ENZYME ACTIVATION; FEMALE; GENE; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUSCLE CELL; PERMEABILITY; PRIORITY JOURNAL; PROTEIN STRUCTURE; THOMSEN DISEASE; WILD TYPE;

EID: 84864302396     PISSN: 00223751     EISSN: 14697793     Source Type: Journal    
DOI: 10.1113/jphysiol.2012.232785     Document Type: Article

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