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• W2045139512 abstract "Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel alpha-subunit gene were cloned and mapped near the human growth hormone locus (GH1) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel alpha-subunit gene contains the HYPP mutation." @default.
• W2045139512 created "2016-06-24" @default.
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• W2045139512 date "1990-11-16" @default.
• W2045139512 modified "2023-09-26" @default.
• W2045139512 title "Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene" @default.
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• W2045139512 doi "https://doi.org/10.1126/science.2173143" @default.
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