2014
DOI: 10.3844/ojbsci.2014.218.229
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Unusual Spectrum of Genetic Pathologies and Novel Mutations in PWS and as Patients Detected by a Wide Cluster of Methods

Abstract: Prader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the PWS/AS critical domain. Apart from unifying methylation-specific PCR and allele specific… Show more

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