Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism

Human Mutation

Volumn 28, Issue 1, 2007, Pages 33-40

  Pujo, Lucie ^a,b,c   Fagart, Jérôme ^b,d   Gary, Françoise ^a   Papadimitriou, Dimitris T ^e,f   Claës, Aurélie ^b,c   Jeunemaître, Xavier ^a,b,c   Zennaro, Maria Christina ^a,b,c  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b INSERM   (France)

^c l'alimentation et l'Environnement   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

^f UNIV GRENOBLE ALPES   (France)

Author keywords

Aldosterone; Crystal structure; Hormone resistance; MR; NR3C2; Nuclear receptors; Salt loss; Steroids

Indexed keywords

ALDOSTERONE; MINERALOCORTICOID RECEPTOR; MUTANT PROTEIN; NUCLEOTIDE; POTASSIUM;

5' UNTRANSLATED REGION; ARTICLE; BLOOD PRESSURE REGULATION; CHILD; CLINICAL ARTICLE; ELECTROLYTE BALANCE; EXON; FAILURE TO THRIVE; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; HORMONE BLOOD LEVEL; HORMONE RESISTANCE; HUMAN; HYPERKALEMIA; HYPERTENSION; INTRON; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN PERIOD; NR3C2 GENE; NUCLEOTIDE SEQUENCE; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; PSEUDOHYPOALDOSTERONISM TYPE 1; RECEPTOR DOWN REGULATION; REGULATORY MECHANISM; SALT LOSING NEPHRITIS;

EID: 33845929578     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20371     Document Type: Article

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