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- W2021506119 abstract "Fucosidosis is an autosomal recessive, lysosomal storage disease featured by deficient activity of α-L-fucosidase. Lymphoid cell lines from a fucosidosis patient (JT) and a healthy individual (control) contained α-L-fucosidase mRNA of the same size, 2.3 Kb, as determined by Northern blot analysis. cDNA was prepared from α-L-fucosidase mRNA of JT and control cells and each cDNA was amplified by the polymerase chain reaction. Direct DNA sequencing of the amplified products revealed a single mutation in JT, a G1141→T transition. This changed the codon (GAA) for Glu-375 to a stop codon (UAA). Amplification and sequencing of the area containing the G1141→T transition in genomic DNA of JT and control cells demonstrated that the mutation was homozygous in JT. Analysis of cDNA and genomic DNA derived from lymphoid cells of mother JT revealed her to be heterozygous (G and T) at position 1141. The F1141→T mutation is probably responsible for disease in JT." @default.
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- W2021506119 date "1992-12-01" @default.
- W2021506119 modified "2023-10-17" @default.
- W2021506119 title "A mutation generating a stop codon in the α-L-fucosidase gene of a fucosidosis patient" @default.
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- W2021506119 doi "https://doi.org/10.1016/0006-291x(92)92312-l" @default.
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