Mutants of 11-hydroxysteroid dehydrogenase (11-hsd2) with partial activity: Improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess

Hypertension

Volumn 34, Issue 4, 1999, Pages 638-642

  Nunez, B Scott ^a   Rogerson, Fraser M ^a   Mune, Tomoatsu ^b   Igarashi, Yoshio ^b   Nakagawa, Yuichi ^b   Phillipov, George ^c   Moudgil, Asha ^c   Travis, Luther B ^d   Palermo, Mario ^d   Shackleton, Cedric ^d   White, Perrin C ^d  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Hydrocortisone; Hydroxysteroid dehydrogenases; Hypertension; Metabolism; Mineralocorticoids; Mutation

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; HYDROCORTISONE; HYDROXYSTEROID DEHYDROGENASE; ISOENZYME; MINERALOCORTICOID;

ADOLESCENT; ARTICLE; BLOOD PRESSURE; CHROMOSOME 16; EXON; FEMALE; GENETICS; GENOTYPE; HUMAN; HYPERTENSION; INFANT; MALE; METABOLISM; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; ENZYME ACTIVITY; ENZYME STABILITY; ENZYME SUBSTRATE; GENE MUTATION; HEREDITARY HYPERTENSION; POINT MUTATION; PRIORITY JOURNAL;

11-BETA-HYDROXYSTEROID DEHYDROGENASES; ADOLESCENT; BLOOD PRESSURE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; EXONS; FEMALE; GENOTYPE; HUMANS; HYDROCORTISONE; HYDROXYSTEROID DEHYDROGENASES; HYPERTENSION; INFANT; ISOENZYMES; MALE; MINERALOCORTICOIDS; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0033211082     PISSN: 0194911X     EISSN: 15244563     Source Type: Journal    
DOI: 10.1161/01.HYP.34.4.638     Document Type: Article

References (17)

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