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- W2000580922 abstract "Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) screening was used for searching mutations of the catalase gene in two Hungarian hypocatalasemic families. A syndrome-causing mutation was found in a PCR product containing exon 7 and its boundaries. Nucleotide sequence analyses detected a G to T substitution at position 5 of intron 7. The effect of this splice site mutation was confirmed by Western blot analyses demonstrating a decreased catalase protein level in these patients. These findings represent a novel type (C) of catalase mutations in the Hungarian acatalasemic/hypocatalasemic patients." @default.
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- W2000580922 date "2001-01-01" @default.
- W2000580922 modified "2023-09-23" @default.
- W2000580922 title "A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and Western blot analyses is responsible for the type C of Hungarian acatalasemia" @default.
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- W2000580922 doi "https://doi.org/10.1002/1522-2683(200101)22:1<49::aid-elps49>3.0.co;2-w" @default.
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