A novel CYP11b2 gene mutation in an asian family with aldosterone synthase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 3, 2009, Pages 914-919

  Løvås, Kristian ^a,b   McFarlane, Ian ^c   Nguyen, Huy Hoang ^d   Curran, Suzanne ^a   Schwabe, John ^e   Halsall, David ^c   Bernhardts, Rita ^d   Wallace, A Michael ^f   Chatterjee, V Krishna K ^a,c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF BERGEN   (Norway)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d SAARLAND UNIVERSITY   (Germany)

^e MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^f NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

18 HYDROXYTETRAHYDRO 11 DEHYDROCORTICOSTERONE; ALDOSTERONE; ALDOSTERONE SYNTHASE; CORTICOSTERONE; DEXAMETHASONE; FLUDROCORTISONE; TETRAHYDROALDOSTERONE; TETRAHYDROCORTICOSTERONE; UNCLASSIFIED DRUG;

ALDOSTERONE BLOOD LEVEL; ARTICLE; ASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME BINDING; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYPERKALEMIA; HYPERRENINEMIC HYPOALDOSTERONISM; HYPOALDOSTERONISM; MALE; PAKISTAN; PRIORITY JOURNAL; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; STEROID METABOLISM; STEROID URINE LEVEL;

EID: 62349103636     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-1524     Document Type: Article

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