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Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant muscle disease with electrophysiological abnormalities suggesting a defect in a voltage-gated sodium channel (NaCh) gene. A human NaCh gene was recently shown to cosegregate with the disease allele in a family with HYPP. Using an indepe...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Ptacek, L J, Tyler, F, Trimmer, J S, Agnew, W S, Leppert, M
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1991
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683285/
https://ncbi.nlm.nih.gov/pubmed/1651050
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