Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia

Hormone Research

Volumn 69, Issue 4, 2008, Pages 227-232

  Liivak, Kaur ^a   Tobi, Simon ^b   Schlecht, Helene ^b   Tillmann, Vallo ^a  

^a UNIVERSITY OF TARTU   (Estonia)

^b ST MARY S HOSPITAL   (United Kingdom)

Author keywords

21 Hydroxylase deficiency; Classical 21 OHD, incidence; Congenital adrenal hyperplasia; CYP21A2 genotype

Indexed keywords

CYTOCHROME P450 21A2; CYTOCHROME P450 ISOENZYME; STEROID 21 MONOOXYGENASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; ESTONIA; FEMALE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; INCIDENCE; INFANT; INTRON; MALE; MUTATIONAL ANALYSIS; NEWBORN; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; RNA SPLICING; SALT LOSING NEPHRITIS; SEX DIFFERENCE; STEROID 21 MONOOXYGENASE DEFICIENCY; VIRILIZATION;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; CHILD; CHILD, PRESCHOOL; ESTONIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENOTYPE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PHENOTYPE; SEX RATIO; STEROID 21-HYDROXYLASE;

EID: 42449147114     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000113023     Document Type: Article

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