Novel CYP17A1 mutation in a Japanese patient with combined 17α-hydroxylase/17,20-lyase deficiency

Metabolism: Clinical and Experimental

Volumn 59, Issue 2, 2010, Pages 275-278

  Katsumata, Noriyuki ^a   Ogawa, Eishin ^b   Fujiwara, Ikuma ^b   Fujikura, Kaori ^c  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Sapporo City Institute of Public Health   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 17; CYTOCHROME P450 17A1; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHILD; CLITORIS; CODON; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENITAL MALFORMATION; HETEROZYGOTE; HUMAN; JAPANESE; KARYOTYPE 46,XY; MISSENSE MUTATION; PRIORITY JOURNAL;

ADRENAL HYPERPLASIA, CONGENITAL; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; FEMALE; HETEROZYGOTE; HUMANS; MUTATION; MUTATION, MISSENSE; SEQUENCE DELETION; STEROID 17-ALPHA-HYDROXYLASE; TRANSFECTION;

EID: 74049113684     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2009.07.024     Document Type: Article

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