Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 2039-2048

  Day, Darren J ^a   Speiser, Phyllis W ^b   Schulze, Egbert ^c   Bettendorf, M ^c   Fitness, Jodene ^a   Barany, Francis ^d   White, Perrin C ^e  

^a VICTORIA UNIVERSITY OF WELLINGTON   (New Zealand)

^b NORTH SHORE UNIVERSITY HOSPITAL   (United States)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; HYDROCORTISONE; MICROSATELLITE DNA; SODIUM; STEROID 21 MONOOXYGENASE;

ADRENAL HYPERPLASIA; AMBIGUITY; ARTICLE; ENZYME DEFICIENCY; FEMALE; GENITAL SYSTEM; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; STEROIDOGENESIS;

EID: 0029806142     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.2039     Document Type: Article

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