21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia

Journal of Pediatric Endocrinology and Metabolism

Volumn 22, Issue 2, 2009, Pages 127-141

  Jeske, Y W A ^a   McGown, I N ^a   Harris, M ^a   Bowling, F G ^a   Choong, C S Y ^b   Cowley, D M ^a   Cotterill, Andrew M ^a  

^a MATER CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; Genotyping

Indexed keywords

STEROID 21 MONOOXYGENASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; ASSAY; AUSTRALIA; CHILD; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; FEMALE; GENE COPY ASSAY; GENE DELETION; GENE FREQUENCY; GENE REARRANGEMENT; GENE SEQUENCE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYBRID GENE; INFANT; MALE; MUTATION RATE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PSEUDOGENE; SALT WASTING; SCHOOL CHILD; SPLICING DEFECT; VIRILIZATION;

EID: 64249162392     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2009.22.2.127     Document Type: Article

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