Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report - Concolino, Paola; Mello, Enrica; Toscano, Vincenzo; Ameglio, Franco; Zuppi, Cecilia; Capoluongo, Ettore (Clinica chimica acta, 2009)
Keywords: Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - genetics; Alleles; CAH diagnosis; CYP21A2; Deletion; Duplication; Exons - genetics; Female; Fetus; Gene Deletion; Gene Dosage; Gene Duplication; Genotype; Humans; Male; Multiplex ligation-dependent probe amplification (MLPA); Mutation - genetics; Nucleic Acid Amplification Techniques - methods; Parents; Siblings; Steroid 21-Hydroxylase - genetics; Deletion; Multiplex ligation-dependent probe amplification (MLPA); Duplication; CYP21A2; CAH diagnosis