Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 11, 2006, Pages 4552-4561

  Riepe, Felix G ^a   Finkeldei, Johannes ^a   De Sanctis, Luisa ^b   Einaudi, Silvia ^c   Testa, Alberto ^b   Karges, Beate ^d   Peter, Michael ^e   Viemann, Matthias ^a   Grötzinger, Joachim ^f   Sippell, Wolfgang G ^a   Fejes Toth, Geza ^g   Krone, Nils ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY OF TURIN   (Italy)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY HOSPITAL ULM   (Germany)

^e Screening Laboratory Hannover   (Germany)

^f UNIVERSITY OF KIEL   (Germany)

^g DARTMOUTH MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; MINERALOCORTICOID RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENE TRANSLOCATION; GENETIC ANALYSIS; HUMAN; IN VITRO STUDY; LIGAND BINDING; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN STRUCTURE; PSEUDOHYPOALDOSTERONISM; RECEPTOR AFFINITY; SALT LOSING NEPHRITIS; TRANSACTIVATION; TRANSCRIPTION INITIATION;

EID: 33751512003     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-1161     Document Type: Article

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