Point mutations abolish 11ß-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess

Molecular and Cellular Endocrinology

Volumn 119, Issue 1, 1996, Pages 21-24

  Ferrari, Paolo ^a   Obeyesekere, Varuni R ^a   Li, Kevin ^a   Wilson, Robert C ^b   New, Maria I ^b   Funder, John W ^a   Krozowski, Zygmunt S ^a  

^a BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^b WEILL CORNELL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; HYDROCORTISONE; MINERALOCORTICOID; MINERALOCORTICOID RECEPTOR;

APPARENT MINERALOCORTICOID EXCESS SYNDROME; ARTICLE; CORTICOSTEROID METABOLISM; ENZYME ACTIVITY; GENE MUTATION; HYPERTENSION; MAMMAL CELL; POINT MUTATION; PRIORITY JOURNAL;

EID: 0029954797     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/0303-7207(96)03787-2     Document Type: Article

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