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Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit.

AuthorsAndrzej Ciechanowicz, Zdenek Dolezel, Grzegorz Placha, Jiri Starha, Jarosław Góra, Zbigniew Gaciong, Andrzej Brodkiewicz, Grazyna Adler
JournalPediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 20 Issue 6 Pg. 837-8 (Jun 2005) ISSN: 0931-041X [Print] Germany
PMID15856328 (Publication Type: Case Reports, Letter)
Chemical References
  • Epithelial Sodium Channels
  • SCNN1B protein, human
  • Sodium Channels
  • Arginine
  • Proline
Topics
  • Arginine
  • Child
  • Epithelial Sodium Channels
  • Genes, Dominant
  • Humans
  • Hypertension (genetics)
  • Male
  • Mutation
  • Proline
  • Sodium Channels (genetics)

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