Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 11, 1998, Pages 4156-4161

  Portrat Doyen, S ^a,h   Tourniaire, J ^b   Richard, O ^c   Mulatero, P ^d   Aupetit Faisant, B ^e   Curnow, K M ^d   Pascoe, L ^d,g   Morel, Y ^a,f  

^a UNIVERSITÉ DE LYON   (France)

^b Hopital de l'Antiquaille   (France)

^c HÔPITAL NORD   (France)

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

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f HÔPITAL DEBROUSSE   (France)

^g FONDATION JEAN DAUSSET CEPH   (France)

^h Min de la Rech et de la Technol

Author keywords

[No Author keywords available]

Indexed keywords

18 HYDROXYDEOXYCORTICOSTERONE; ALDOSTERONE; ALDOSTERONE SYNTHASE; CALCIUM; CORTICOSTERONE; CYTOCHROME P450; FLUDROCORTISONE; OXIDOREDUCTASE; SODIUM; STEROID 11BETA MONOOXYGENASE;

ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HORMONE SYNTHESIS; HUMAN; HYPOCALCEMIA; HYPOCALCIURIA; MALE; PHENOTYPE; PRIORITY JOURNAL; SALT LOSING NEPHRITIS;

EID: 0031733923     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.11.4156     Document Type: Article

References (28)

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