A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Gene

Volumn 526, Issue 2, 2013, Pages 239-245

  Coeli Lacchini, Fernanda Borchers ^a   Turatti, Wendy ^a   Elias, Paula Conde Lamparelli ^a   Elias, Lucila Leico Kagohara ^a   Martinelli, Carlos Eduardo ^a   Moreira, Ayrton Custodio ^a   Antonini, Sonir Roberto ^a   de Castro, Margaret ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

21 Hydroxylase deficiency; Congenital adrenal hyperplasia; CYP21A1P; CYP21A2 gene; MLPA

Indexed keywords

ADOLESCENT; ADULT; ALGORITHM; ALLELE; ALLELE SPECIFIC OLIGONUCLEOTIDE OLYMERASE CHAIN REACTION; ARTICLE; CHILD; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; CYP21A1P GENE; CYP21A2 GENE; DIAGNOSTIC KIT; DIAGNOSTIC TEST ACCURACY STUDY; FALSE POSITIVE RESULT; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE FREQUENCY; GENE REARRANGEMENT; GENETIC POLYMORPHISM; GENETIC RECOMBINATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEWBORN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RELIABILITY; SCHOOL CHILD; STEROID 21 MONOOXYGENASE DEFICIENCY;

17-HYDROXYPROGESTERONE; 17-OHP; 21-HYDROXYLASE DEFICIENCY; 21OHD; 3′ UNTRANSLATED; 3′UTR; 30-KB DELETION; 5′ UNTRANSLATED; 5′UTR; ACTH; ADRENOCORTICOTROPIC HORMONE; ALLELE SPECIFIC OLIGONUCLEOTIDE POLYMERASE CHAIN REACTION; ASO-PCR; CAH; CONGENITAL ADRENAL HYPERPLASIA; CYP21A1P; CYP21A2 GENE; DEHYDROEPIANDROSTERONE SULFATE; DELETION OF 30-KB INCLUDING 3′-END CYP21A1P, C4B, AND 5′-END CYP21A2; DHEAS; MLPA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NC; NON-CLASSICAL; RCCX MODULE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RFLP; RP, C4, CYP21 AND TNX GENES; SALT-WASTING; SIMPLE-VIRILIZING; SV; SW;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; CHILD; CHILD, PRESCHOOL; EXONS; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROMOTER REGIONS, GENETIC; STEROID 21-HYDROXYLASE; YOUNG ADULT;

EID: 84880763132     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.082     Document Type: Article

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