Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report

Clinica Chimica Acta

Volumn 402, Issue 1-2, 2009, Pages 164-170

  Concolino, Paola ^a   Mello, Enrica ^a   Toscano, Vincenzo ^b   Ameglio, Franco ^a   Zuppi, Cecilia ^a   Capoluongo, Ettore ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

CAH diagnosis; CYP21A2; Deletion; Duplication; Multiplex ligation dependent probe amplification (MLPA)

Indexed keywords

ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; CYP21A1P GENE; CYP21A2 GENE; FEMALE; FETUS; GENE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENE SEQUENCE; HUMAN; ITALY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PSEUDOGENE; SENSITIVITY AND SPECIFICITY; SOUTHERN BLOTTING;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; EXONS; FEMALE; FETUS; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENOTYPE; HUMANS; MALE; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PARENTS; SIBLINGS; STEROID 21-HYDROXYLASE;

EID: 60649110201     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.01.008     Document Type: Article

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