A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I

Journal of Endocrinological Investigation

Volumn 34, Issue 2, 2011, Pages 140-144

  Carvajal, C A ^a   Stehr, C B ^a   Gonzalez P A ^b   Riquelme, E M ^b   Montero, T ^a   Santos, M J ^b   Kalergis, A M ^b   Fardella, Carlos E ^a,b  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

Author keywords

Chimeric CYP11B1 CYP11B2 gene; Familial hyperaldosteronism type I; Glucocorticoid remediable aldosteronism

Indexed keywords

ALDOSTERONE; ALDOSTERONE SYNTHASE; AMILORIDE; ANGIOTENSIN II; CORTICOTROPIN; CREATININE; FLUDROCORTISONE; POTASSIUM; SODIUM; STEROID 11BETA MONOOXYGENASE;

ADRENAL SUPPRESSION; ADULT; AGED; ALDOSTERONE BLOOD LEVEL; ARTICLE; CHILE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CREATININE BLOOD LEVEL; CROSS OVER MUTATION; DAUGHTER; DNA SEQUENCE; ENZYME ACTIVITY; ESSENTIAL HYPERTENSION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOME; HUMAN; INTRON; MALE; PARENT; PLASMA RENIN ACTIVITY; POLYMERASE CHAIN REACTION; POTASSIUM BLOOD LEVEL; PRIMARY HYPERALDOSTERONISM; SIBLING; SODIUM BLOOD LEVEL; SOUTHERN BLOTTING;

ADOLESCENT; AGED; AGED, 80 AND OVER; ALDOSTERONE SYNTHASE; CROSSING OVER, GENETIC; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPERALDOSTERONISM; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; STEROID 11-BETA-HYDROXYLASE;

EID: 79956366912     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/7171     Document Type: Article

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