A novel splice-acceptor site mutation (I
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Anna Thongnoppakhun; Nanyawan Rungroj; Prapon Wilairat; Kriengsak Vareesangthip;
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Article
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2000
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John Wiley and Sons
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English
โ 222 KB
๐ 3 views
Autosomal dominant polycystic kidney disease (ADPKD) occurs mainly from mutations of polycystic kidney disease 1 (PKD1) gene. A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. The IVS1