Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: Further evidence for marked interindividual clinical heterogeneity

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 4, 2003, Pages 1683-1686

  Riepe, Felix G ^a   Krone, Nils ^a   Morlot, Michel ^b   Ludwig, Michael ^c   Sippell, Wolfgang G ^a   Partsch, Carl Joachim ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b KINDERKRANKENHAUS AUF DER BULT   (Germany)

^c UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; AMILORIDE; AMINO ACID; MINERALOCORTICOID RECEPTOR; REGULATOR PROTEIN; RENIN; SODIUM CHANNEL;

ALDOSTERONE BLOOD LEVEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DNA POLYMORPHISM; FAILURE TO THRIVE; GENE IDENTIFICATION; GENETIC HETEROGENEITY; GERMANY; HAPLOTYPE; HETEROZYGOTE; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLASMA RENIN ACTIVITY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM; SALT LOSING NEPHRITIS; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SODIUM BALANCE; STOP CODON;

DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EPITHELIAL SODIUM CHANNEL; GERMANY; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PSEUDOHYPOALDOSTERONISM; RECEPTORS, MINERALOCORTICOID; SEQUENCE ANALYSIS, DNA; SODIUM CHANNELS;

EID: 0037683732     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021556     Document Type: Article

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