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- W2373883379 abstract "Objective To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria. Methods Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation scanning was carried out by PCR and direct sequencing. Results A heterozygous nucleotide A→G transition at position 2879 in exonlO of ADAR was detected in this family, but not found in the normal individuals of the family or 150 unrelated individuals. Conclusion A missense mutation (2879 A→G) in ADAR gene is detected in the DSH family, which is probably one of the molecular bases of the pathogenesis of the disease." @default.
- W2373883379 created "2016-06-24" @default.
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- W2373883379 date "2005-01-01" @default.
- W2373883379 modified "2023-09-22" @default.
- W2373883379 title "A Mutation in ADAR Gene in a Pedigree with Dyschromatosis Symmetrical Hereditaria" @default.
- W2373883379 hasPublicationYear "2005" @default.
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