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BACKGROUND In this study the authors present an update to the CFTR mutation profile in Hungary, utilizing data from a selected cohort of 45 cystic fibrosis (CF) patients from different regions of the country. METHODS Depending on the preceding analysis, four different mutation detection methods were used. A commercial assay targeting the most common(More)
Cerebrotendinous xanthomatosis (CTX) is a rare, genetically determined error of metabolism. The characteristic clinical symptoms are diarrhea, juvenile cataracts, tendon xanthomas and neuropsychiatric alterations. The aim of this study is to present a pair of identical adult twins with considerable differences in the severity of phenotype. With regards to(More)
The mechanisms that regulate papillomavirus gene expression include DNA methylation. The transcription of papillomavirus oncogenes E6 and E7 is controlled by certain regulatory elements in the LCR, which include binding sites for the E2 protein, a viral regulator of oncogene expression. In HPV-31-infected exfoliated cervical cells, the CpG methylation of(More)
Telecom service providers are augmenting telephony networks with packet-switched networks, enabling converged voice, data, and multimedia transport over a single network infrastructure. However, the profound mismatch between circuit-switched telephony networks and packet-switched data networks makes providing converged voice and data services difficult.(More)
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