Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese

Human Genetics

Volumn 103, Issue 3, 1998, Pages 304-310

  Lee, Hsien Hsiung ^a   Chao, Hsiang Tai ^a   Lee, Yann Jinn ^b   Shu, San Ging ^c   Chao, Mei Chyn ^d   Kuo, Jing Mei ^e   Chung, Bun Chu ^e  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^e INSTITUTE OF MOLECULAR BIOLOGY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; PROTEIN; STEROID 21 MONOOXYGENASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; CODON; CONGENITAL ADRENAL HYPERPLASIA; DNA SEQUENCE; DONOR SITE; ENZYME ACTIVITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE CONVERSION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NORMAL HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA TRANSLATION; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; TAIWAN;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; SEQUENCE ANALYSIS, DNA; STEROID 21-HYDROXYLASE; TAIWAN;

EID: 0031658966     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050821     Document Type: Article

References (17)

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