Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan

Endocrine Journal

Volumn 45, Issue 4, 1998, Pages 493-497

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

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

^b HOKKAIDO UNIVERSITY   (Japan)

^c Sapporo City University   (Japan)

^d ELI LILLY AND COMPANY   (United States)

Author keywords

Congenital adrenal hyperplasia; Neonatal mass screening; Nonclassical 21 hydroxylase deficiency; Point mutation; Polymerase chain reaction

Indexed keywords

HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; JAPAN; MALE; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 0031722006     PISSN: 09188959     EISSN: None     Source Type: Journal    
DOI: 10.1507/endocrj.45.493     Document Type: Article

References (23)

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