Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

Nature Genetics

Volumn 12, Issue 3, 1996, Pages 248-253

  Chang, Sue S ^a,b   Grunder, Stefan ^c   Hanukoglu, Aaron ^d,e   Rösler, Ariel ^f   Mathew, P M ^g   Hanukoglu, Israel ^h,i   Schild, Laurent ^c   Lu, Yin ^a   Shimkets, Richard A ^a   Nelson Williams, Carol ^a   Rossier, Bernard C ^c   Lifton, Richard P ^a,b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d WOLFSON MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

^f HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^g DHAHRAN HEALTH CENTER   (Saudi Arabia)

^h ARIEL UNIVERSITY   (Israel)

ⁱ TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ARTICLE; GENE MUTATION; HUMAN; HYPERKALEMIA; METABOLIC ACIDOSIS; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; SALT LOSING NEPHRITIS;

ANIMALS; BASE SEQUENCE; DNA; EPITHELIAL SODIUM CHANNEL; EPITHELIUM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PSEUDOHYPOALDOSTERONISM; RATS; SODIUM CHANNELS;

EID: 13344295074     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0396-248     Document Type: Article

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