Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1

European Journal of Endocrinology

Volumn 156, Issue 2, 2007, Pages 249-256

  Balsamo, Antonio ^a   Cicognani, Alessandro ^a   Gennari, Monia ^a   Sippell, Wolfgang G ^b   Menabò, Soara ^a   Baronio, Federico ^a   Riepe, Felix G ^b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; GENOMIC DNA; MINERALOCORTICOID RECEPTOR; HYDROCORTISONE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BINDING ASSAY; CASE REPORT; CONTROLLED STUDY; ETHNICITY; FRAMESHIFT MUTATION; GENE ACTIVATION; GENE SEQUENCE; GENETIC RISK; GENETIC VARIABILITY; HUMAN; ITALY; MALE; MICROSATELLITE MARKER; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PSEUDOHYPOALDOSTERONISM; PSEUDOHYPOALDOSTERONISM TYPE 1; REPORTER GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; BLOOD; FEMALE; GENE FREQUENCY; GENETICS; PEDIGREE; PROTEIN SYNTHESIS; STOP CODON;

ADULT; ALDOSTERONE; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; HUMANS; HYDROCORTISONE; ITALY; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BIOSYNTHESIS; PSEUDOHYPOALDOSTERONISM; RECEPTORS, MINERALOCORTICOID;

EID: 33947732908     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.02330     Document Type: Article

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