Molecular Identification of Combined Homozygous and Compound Heterozygous Mutations in the CYP21 Gene in Simple Virilizing Congenital Adrenal Hyperplasia in Taiwan

Acta Paediatrica Taiwanica

Volumn 44, Issue 6, 2003, Pages 339-342

  Wang, Hsu Hui ^a   Lee, Hsien Hsiung ^b   Wu, Du An ^c   Lee, Yann Jin ^d   Chung, Bon Chu ^e   Wang, Tso Ren ^f  

^a SHIN KONG WU HO SU MEMORIAL HOSPITAL   (Taiwan)

^b King Car Food Industrial Co Ltd   (Taiwan)

^c CHENG HSIN REHABILITATION MEDICAL CENTER   (Taiwan)

^d TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^e INSTITUTE OF MOLECULAR BIOLOGY   (Taiwan)

^f NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

Codon 172 and intron 2 (nt656) compound heterozygous mutation; Combined intron (nt656) and 8 bp homozygous mutation; Congenital adrenal hyperplasia; Molecular pathology; Multiple gene conversion

Indexed keywords

DNA; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE; TESTOSTERONE;

ADRENAL HYPERPLASIA; ARTICLE; CODON; CONGENITAL ADRENAL HYPERPLASIA; FAMILY STUDY; GENE AMPLIFICATION; GENE CONVERSION; GENE MUTATION; HORMONE DETERMINATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; TAIWAN;

ADRENAL HYPERPLASIA, CONGENITAL; EXONS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INTRONS; MALE; MUTATION; STEROID 21-HYDROXYLASE; TAIWAN;

EID: 0742271061     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (11)

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