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- W2383633718 abstract "Objective To study the relationship between mitochondrial DNA(mtDNA) D-loop mutation and Huntington disease(HD).Methods(CAG)n repeat size and mtDNA D-loop fragment deletion or insertion were detected by PCR-DNA sequencing in two HD pedigree.Results Normal individuals(CAG)n≤18 times,patient's abnormal n≥40 times.There were no fragment deletion and insertion in the mitochondrial control region.Conclusion Big fragment's recombination in mtDNA control region maybe isn't the important factor in HD pathogenic mechanism." @default.
- W2383633718 created "2016-06-24" @default.
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- W2383633718 date "2011-01-01" @default.
- W2383633718 modified "2023-09-25" @default.
- W2383633718 title "Dynamic mutation of huntingtin gene and detection of mtDNA D-loop hypervariable region in two huntington disease pedigrees" @default.
- W2383633718 hasPublicationYear "2011" @default.
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