Condition: Liddle Syndrome


rs137852704 in SCNN1B gene and Liddle Syndrome PMID 27900368 2016 Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

PMID 7550319 1995 Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

PMID 8524790 1995 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.

PMID 15483078 2005 Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.

PMID 9626162 1998 A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.

PMID 9794716 1998 Genetic analysis of the epithelial sodium channel in Liddle's syndrome.

PMID 8601645 1996 Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.