Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit.
Ciechanowicz
Andrzej
A
Pomeranian Medical University, Department of Pathobiochemistry and Molecular Biology, ul. Powstancow Wlkp. Szczecin, Poland. aciech@sci.pam.szczecin.pl
Dolezel
Zdenek
Z
Placha
Grzegorz
G
Starha
Jiri
J
Góra
Jarosław
J
Gaciong
Zbigniew
Z
Brodkiewicz
Andrzej
A
Adler
Grazyna
G
D001120:Arginine; D002648:Child; D053503:Epithelial Sodium Channels; D005799:Genes, Dominant; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D009154:Mutation; D011392:Proline; D015222:Sodium Channels / Q000235:genetics*
D053503:Epithelial Sodium Channels; C507048:SCNN1B protein, human; D015222:Sodium Channels; D001120:Arginine; D011392:Proline