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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions por Holger Lerche, Christian Biervert, Alexi K. Alekov, Lothar Schleithoff, Martin Lindner, Werner Klingler, Frank Bretschneider, Nenad Mitrović, Karin Jurkat‐Rott, Harald Bode, F. Lehmann‐Horn, Ortrud K. Steinlein
Publicado 1999Artigo
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Biology
Endocrinology
Gene
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Mutation
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Malignant hyperthermia
Mutant
Pathology
Phenotype
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Potassium channel
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Ryanodine receptor
Ryanodine receptor 2
Skeletal muscle
Voltage-gated potassium channel