Inoue, T

Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease. [electronic resource] - European journal of endocrinology Jun 1998 - 691-7 p. digital

Publication Type: Case Reports; Journal Article; Review

0804-4643

10.1530/eje.0.1380691 doi


Adolescent
Adult
Amino Acid Sequence
Amino Acid Substitution
Arginine
Base Sequence
Cytosine
Epithelial Cells--physiology
Female
Genes, Dominant
Humans
Hypertension--blood
Molecular Sequence Data
Mutagenesis, Insertional
Pedigree
Peptide Fragments--genetics
Sodium Channels--chemistry
Syndrome
Water-Electrolyte Imbalance--genetics