Molecular diagnosis for steroid 21-hydroxylase deficiency by polymerase chain reaction with dried blood spots

Clinical Pediatric Endocrinology

Volumn 6, Issue 1, 1997, Pages 15-22

  Mikami, A ^a   Tajima, T ^a   Yamaguchi, A ^a   Sato, Y ^a   Fukushi, M ^a   Kikuchi, Y ^a   Fujieda, K ^a  

^a Sapporo City Institute of Public Health   (Japan)

Author keywords

CYP21B; Hot start polymerase chain reaction; Neonatal screening; Restriction site analysis

Indexed keywords

STEROID 21 MONOOXYGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD ANALYSIS; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; EXON; FEMALE; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; INTRON; MALE; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; POINT MUTATION; POLYMERASE CHAIN REACTION; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 0031402461     PISSN: 09185739     EISSN: None     Source Type: Journal    
DOI: 10.1297/cpe.6.15     Document Type: Article

References (20)