Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1

Proceedings of the National Academy of Sciences of the United States of America

Volumn 108, Issue 10, 2011, Pages 4111-4116

  Lawson, Alexander J ^a   Walker, Elizabeth A ^a   Lavery, Gareth G ^a   Bujalska, Iwona J ^a   Hughes, Beverly ^a   Arlt, Wiebke ^a   Stewart, Paul M ^a   Ride, Jonathan P ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 1; 3ALPHA(OR 20BETA) HYDROXYSTEROID DEHYDROGENASE; ANDROGEN; DIMER; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; HETERODIMER; HYDROCORTISONE;

3ALPHA(OR 20BETA) HYDROXYSTEROID DEHYDROGENASE DEFICIENCY; ADOLESCENT; ANIMAL CELL; ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; GENE EXPRESSION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERANDROGENISM; MASS SPECTROMETRY; METABOLITE; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PUBERTY; PURIFICATION;

11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 1; 11-BETA-HYDROXYSTEROID DEHYDROGENASES; 46, XX DISORDERS OF SEX DEVELOPMENT; AMINO ACID SEQUENCE; ANIMALS; CATALYTIC DOMAIN; CELL LINE; DIMERIZATION; FEMALE; HETEROZYGOTE; HIRSUTISM; HUMANS; HYDROCORTISONE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

BACTERIA (MICROORGANISMS); MAMMALIA;

EID: 79952763771     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1014934108     Document Type: Article

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