Liddle’s Syndrome Caused by a Novel Mutation in the Proline-Rich PY Motif of the Epithelial Sodium Channel β-Subunit

Abstract excerpt

Liddle's syndrome is an autosomal dominant form of salt-sensitive hypertension and has been shown to be caused by missense or frameshift mutations in the amiloride-sensitive epithelial sodium channel (ENaC), which is composed of three subunits: alpha, beta, and gamma. All disease mutations either remove or alter amino acids of the target proline-rich PPPxY sequence (PY motif) of beta- or gamma-ENaC and result in...

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