Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 7, 1997, Pages 2350-2356

  Tajima, Toshihiro ^a,b   Fujieda, Kenji ^b   Nakae, Jun ^b   Toyoura, Takio ^c   Shimozawa, Kazuhiko ^c   Kusuda, Satoshi ^d   Goji, Katsumi ^e   Nagashima, Teturo ^f   Cutler Jr , Gordon B ^a  

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

^b HOKKAIDO UNIVERSITY   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d OSAKA MEDICAL COLLEGE   (Japan)

^e HYOGO COLLEGE OF MEDICINE   (Japan)

^f Kushiro Red Cross Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ALLELE; CONGENITAL ADRENAL HYPERPLASIA; GENE CONVERSION; GENE MUTATION; HUMAN; JAPAN; NEWBORN; NEWBORN SCREENING; NOTE; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; RNA SPLICING; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; BASE SEQUENCE; HUMANS; INFANT, NEWBORN; JAPAN; MASS SCREENING; MUTATION; PEDIGREE; SENSITIVITY AND SPECIFICITY; STEROID 21-HYDROXYLASE;

EID: 0030792064     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.7.2350     Document Type: Note

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