Article
Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia.
Hormone research in paediatrics - 1 Jan 2011
Skordis Nicos, Kyriakou Andreas, Tardy Véronique, Ioannou Yiannis S, Varvaresou Athanasia, Dracopoulou-Vabouli Maria, Patsalis Philippos C, Shammas Christos, Neocleous Vassos, Phylactou Leonidas A
Abstract excerpt
BACKGROUND/AIM: To determine the mutations in the CYP21A2 gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation. SUBJECTS AND METHODS: Molecular analysis was performed by multiplex ligation-dependent probe amplification and direct sequencing of PCR products of the CYP21A2 gene in 32 CAH patients. RESULTS: The most frequent genetic defect in the classic...
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