A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Eitemau Tebyg

• A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.
  gan: Schild, L, et al.
  Cyhoeddwyd: (1995)
• Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.
  gan: Tamura, H, et al.
  Cyhoeddwyd: (1996)
• Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome.
  gan: Schild, L, et al.
  Cyhoeddwyd: (1996)
• Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system.
  gan: Kellenberger, S, et al.
  Cyhoeddwyd: (1998)
• The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.
  gan: Jackson, S N, et al.
  Cyhoeddwyd: (1998)