A novel splice-site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

Nature Genetics

Volumn 13, Issue 2, 1996, Pages 248-250

  Strautnieks, Sandra S ^a   Thompson, Richard J ^a   Gardiner, R Mark ^a   Chung, Eddie ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 12P; CHROMOSOME 16P; GENE LOCUS; GENE MAPPING; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 16; CONSERVED SEQUENCE; EPITHELIAL SODIUM CHANNEL; HUMANS; LINKAGE (GENETICS); MOLECULAR SEQUENCE DATA; MUTATION; PSEUDOHYPOALDOSTERONISM; RNA SPLICING; SEQUENCE HOMOLOGY, AMINO ACID; SODIUM CHANNELS;

EID: 0030068042     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0696-248     Document Type: Article

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