Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency)

Journal of Molecular Diagnostics

Volumn 7, Issue 2, 2005, Pages 236-246

  Keen Kim, Dianne ^a   Redman, Joy B ^a   Alanes, Reno U ^a   Eachus, Michele M ^a   Wilson, Robert C ^b   New, Maria I ^b   Nakamoto, Jon M ^a   Fenwick, Raymond G ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; CORTICOSTEROID; DNA; GLUCOCORTICOID; STEROID 21 MONOOXYGENASE;

AGAR GEL ELECTROPHORESIS; ALLELE; ANDROGEN SYNTHESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL PRACTICE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA DETERMINATION; GENE CONVERSION; GENE DELETION; GENE IDENTIFICATION; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PSEUDOGENE; RELIABILITY; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SOUTHERN BLOTTING; STEROIDOGENESIS; VALIDATION PROCESS;

EID: 18744390309     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-1578(10)60550-8     Document Type: Article

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