Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore

Hormone Research

Volumn 55, Issue 4, 2001, Pages 179-184

  Loke, Kah Yin ^a,b   Lee, Yung Seng ^a   Lee, Warren Wei Rhen ^a   Poh, Larry Kok Seng ^a  

^a NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

Congenital adrenal hyperplasia; Genotype phenotype correlation; Molecular genetics; Novel mutations; Singapore

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; CHROMOSOME 6P; CLINICAL ARTICLE; CODON; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE AMPLIFICATION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGAPORE; SITE DIRECTED MUTAGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SINGAPORE; STEROID 21-HYDROXYLASE;

EID: 0035742750     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000049992     Document Type: Article

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