Cysticfi brosis

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  • The primary cause of cystic fibrosis (CF), the most frequent fatal genetic disease in Caucasians, is deletion of phenylalanine at position 508 (F508del), located in the first nucleotide-binding domain (NBD1) of the CF transmembrane conductance regulator (CFTR) protein.

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  • Salters-Nuffi eld Advanced Biology (SNAB) is much more than just another A-level specifi cation. It is a complete course with its own distinctive philosophy. h e course is supported by a comprehensive set of teaching, learning and support materials which embrace a student centred approach. SNAB combines the key concepts underpinning biology today, combined with the opportunity to gain the wider skills that biologists now need.

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  • The guideline will not consider management of the fol- lowing clinical presentations, although differential diagno- sis for these conditions and bacterial rhinosinusitis will be discussed: allergic rhinitis, eosinophilic nonallergic rhinitis, vasomotor rhinitis, invasive fungal rhinosinusitis, allergic fungal rhinosinusitis, vascular headaches, and migraines.

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  • The cystic ®brosis transmembrane conductance regulator (CFTR) gene shows a complex pattern of expression, with temporal and spatial regulation that is not accounted for by elements in the promoter. One approach to identifying the regulatory elements forCFTRis the mapping of DNase I hypersensitive sites (DHS) within the locus. We previously identi®ed at least 12 clusters of DHS across theCFTRgene andhere further evaluateDHS in introns 2, 3, 10, 16, 17a, 18, 20 and 21 to assess their functional importance in regulation ofCFTRgene expression. ...

    pdf7p research12 23-04-2013 13 1   Download

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