Prenatal Diagnosis of Steroid 21-Hydroxylase Deficiency by the Modified Polymerase Chain Reaction to Detect Splice Site Mutation in the CYP21 Gene

Endocrine Journal

Volumn 45, Issue 3, 1998, Pages 291-295

  Tajima, Toshihiro ^a,c   Fujieda, Kenji ^b   Mikami, Atushi ^c   Igarashp, Yutaka ^d   Nakae, Jun ^b   Cutler Jr , Gordon B ^a,e  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b HOKKAIDO UNIVERSITY   (Japan)

^c Sapporo City Institute of Public Health   (Japan)

^d Igarashi Children's Clinic   (Japan)

^e ELI LILLY AND COMPANY   (United States)

Author keywords

Chorionic villus sampling; Polymerase chain reaction; Prenatal diagnosis; Steroid 21 hydroxylase deficiency

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; BASE MISPAIRING; BINDING SITE; CASE REPORT; CHORION VILLUS SAMPLING; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENETICS; HUMAN; MALE; METHODOLOGY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RNA SPLICING;

ADRENAL HYPERPLASIA, CONGENITAL; BASE PAIR MISMATCH; BINDING SITES; CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; POLYMERASE CHAIN REACTION; RNA SPLICING; STEROID 21-HYDROXYLASE;

EID: 0032082902     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.45.291     Document Type: Article

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