The diagnosis of Liddle syndrome by identification of a mutation in the β subunit of the epithelial sodium channel

Journal of Medical Genetics

Volumn 35, Issue 6, 1998, Pages 510-512

  Jackson, Stephen N J ^a,b   Williams, Bryan ^b   Houtman, Peter ^a   Trembath, Richard C ^a,b  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

Author keywords

h ENaC; Liddle syndrome

Indexed keywords

CYTOSINE; DNA; SODIUM CHANNEL;

ALLELE; ARTICLE; CLINICAL ARTICLE; CODON; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENE SEGREGATION; GENETIC COUNSELING; HUMAN; HYPERTENSION; LIDDLE SYNDROME; MALE; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALDOSTERONE; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOOD PRESSURE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CYTOSINE; FEMALE; FRAMESHIFT MUTATION; HUMANS; HYPERALDOSTERONISM; HYPERTENSION; KIDNEY; MACROMOLECULAR SUBSTANCES; MALE; NUCLEAR FAMILY; PEDIGREE; RENIN; SODIUM CHANNELS;

EID: 0031778313     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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