A compound heterozygous mutation in the CYP17 (17α-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia

Metabolism: Clinical and Experimental

Volumn 56, Issue 4, 2007, Pages 504-507

  Won, Gin Sing ^a,b   Chiu, Chih Yang ^b,c   Tso, Yi Chu ^b,c   Jenq, Shwu Fen ^b,c   Cheng, Pi Sung ^a,b   Jap, Tjin Shing ^a,b,c  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c Laboratory Medicine   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; CYTOCHROME P450 17; PROLINE; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHINESE; CODON; CONGENITAL ADRENAL HYPERPLASIA; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; TAIWAN;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; BASE SEQUENCE; CHINA; DNA PRIMERS; FEMALE; HETEROZYGOTE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; STEROID 17-ALPHA-HYDROXYLASE;

EID: 33947219532     PISSN: 00260495     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.metabol.2006.11.009     Document Type: Article

References (18)

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