Andersen’s syndrome mutants produce a knockdown of inwardly rectifying K+ channel in mouse skeletal muscle in vivo
Andersen’s syndrome (AS) is a rare autosomal disorder that has been defined by the triad of periodic paralysis, cardiac arrhythmia, and developmental anomalies. AS has been directly linked to over 40 different autosomal dominant negative loss-of-function mutations in the KCNJ2 gene, encoding for the...
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Veröffentlicht in: | Cell and tissue research 2018-02, Vol.371 (2), p.309-323 |
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