Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency

American Journal of Medical Genetics

Volumn 61, Issue 1, 1996, Pages 2-9

  Witchel, Selma Siegel ^a   Lee, Peter A ^a   Trucco, Massimo ^a  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

21 hydroxylase deficiency; adrenal gland; adrenal steroidogenesis; congenital adrenal hyperplasia

Indexed keywords

ANDROSTENEDIONE; DNA; HLA ANTIGEN; HYDROXYPROGESTERONE; NUCLEOTIDE; OLIGONUCLEOTIDE; PROGESTERONE; STEROID 21 MONOOXYGENASE; TETRACOSACTIDE;

ALLELE; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; EXON; GENE; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INTRAVENOUS DRUG ADMINISTRATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOIMMUNOASSAY; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD; DNA PRIMERS; EXONS; FEMALE; HAPLOTYPES; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; STEROID 21-HYDROXYLASE;

EID: 0030030695     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960102)61:1<2::AID-AJMG1>3.0.CO;2-1     Document Type: Article

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