Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia

Journal of Steroid Biochemistry and Molecular Biology

Volumn 123, Issue 3-5, 2011, Pages 109-114

  Gaffney, Dairena ^a   Howie, A Forbes ^b   Bakkush, Anwar M El ^b   Hoffmann, Thorsten M ^b   Mason, J Ian ^b   Wallace, A Michael ^a   Donaldson, Malcolm D C ^c  

^a NHS Greater Glasgow and Clyde Clinical Biochemistry Service   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Congenital adrenal hyperplasia; CYP21A2; H365Y; R356W; Salt wasting; Steroid 21 hydroxylase deficiency

Indexed keywords

CORTODOXONE; DEOXYCORTICOSTERONE; HYDROXYPROGESTERONE; PROGESTERONE; STEROID 21 MONOOXYGENASE;

ADOLESCENT; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; STEROID 21-HYDROXYLASE;

EID: 79151474610     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2010.11.013     Document Type: Article

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