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]
Producer: 19980805Description: 691-7 p. digitalISSN:- 0804-4643
- 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
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Publication Type: Case Reports; Journal Article; Review
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