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NACP-Rep1, a polymorphic microsatellite upstream of the -synuclein gene (SNCA), consisting of the nucleotides (TC)x(T)2(TC)y(TA)z(CA)w, has five alleles originally defined by 2-bp differences in (CA)w. Different NACP-Rep1 alleles have been associated with sporadic Parkinsons disease in some, but not all, studies and can effect expression driven by the SNCA promoter over a three-fold range in the neuroblastoma...
Disease severity varies among cystic fibrosis (CF) patients carrying the same CFTR genotype. Here we studied the mechanism underlying disease variability in individuals carrying a splicing CFTR mutation, 3849+10 kb C→T. This mutation was shown to produce both correctly and aberrantly spliced CFTR transcripts containing an additional cryptic exon. Semiquantitative nondifferential RT-PCR showed considerable...
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