A particular phenotype in a girl with aldosterone synthase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 7, 2004, Pages 3168-3172

  Williams, Tracy A ^a   Mulatero, Paolo ^a,f   Bosio, Maurizio ^b   Lewicka, Sabina ^d   Palermo, Mario ^c   Veglio, Franco ^a   Armanini, Decio ^e  

^a UNIVERSITY OF TURIN   (Italy)

^b Centro Diagnostico Italiano   (Italy)

^c UNIVERSITY OF SASSARI   (Italy)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF PADOVA   (Italy)

^f Ospedale San Vito   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

18 HYDROXYCORTICOSTERONE; ALDOSTERONE; ALDOSTERONE RECEPTOR; ALDOSTERONE SYNTHASE; CORTICOSTERONE; CYTOCHROME P450; FLUDROCORTISONE; HEME; RENIN;

ALDOSTERONE BLOOD LEVEL; ALDOSTERONE SYNTHASE DEFICIENCY; BINDING SITE; CASE REPORT; CONFERENCE PAPER; ENZYME DEFICIENCY; EXON; FAILURE TO THRIVE; FEMALE; GENE LOCATION; HETEROZYGOTE; HORMONE DETERMINATION; HUMAN; HYPERKALEMIA; LABORATORY TEST; NEWBORN; NONSENSE MUTATION; PHENOTYPE; PLASMA RENIN ACTIVITY; PRIORITY JOURNAL; RECEPTOR BINDING; SALT LOSING NEPHRITIS; SEQUENCE ANALYSIS; STOP CODON;

ALDOSTERONE SYNTHASE; BINDING SITES; CODON, NONSENSE; CODON, TERMINATOR; FEMALE; GLUTAMIC ACID; GLUTAMINE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MOLECULAR BIOLOGY; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; RECEPTORS, ALDOSTERONE; STEROID METABOLISM, INBORN ERRORS;

EID: 3242698536     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-031912     Document Type: Conference Paper

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