Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis

Journal of Pediatrics

Volumn 131, Issue 2, 1997, Pages 328-331

  Witchel, S F ^a   Nayak, S ^a   Suda Hartman, M ^a   Lee, P A ^a  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYPROGESTERONE; STEROID; STEROID 21 MONOOXYGENASE;

ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; NEWBORN; PRIORITY JOURNAL; SCREENING; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROID BLOOD LEVEL;

EID: 0030666148     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)70178-1     Document Type: Article

References (13)

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3. A Wedell ME Ritzén B Haglund-Stengler H Luthman Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations Proc Natl Acad Sci U S A 89 1992 7232 7236
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11. D Owerbach L Sherman AL Ballard R. Azziz Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency Mol Endocrinol 6 1992 1211 1215
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