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- W2380189162 abstract "Objective To explore mutations within exon 12 of the human glutamate receptor delta 2 gene (GluRδ2)among patients with cerebellar ataxia.Methods Subjects included in the test were 24 patients with cerebellar ataxia(17 patients with hereditary cerebellar ataxias and 7 unrelated sporadic cerebellar ataxias patients),16 family members and 10 normal controls.Polymerase chain reaction(PCR),agarose gel electrophoresis(AGE),and direct sequencing analysis were performed to detect mutations within exon 12 of the human GluRδ2 gene.Results All samples of 24 patients,16 family members and 10 normal controls by PCR amplification and AGE showed the 222 bp amplified fragment and no homozygous deletion was observed.DNA sequencing results displayed neither mutation similar to ho5J nor to lurcher mutant,as seen in mice,among 24 patients.Conclusion Homozygous deletion or point mutation within exon 12 of the human GluRδ2 gene does not exist among patients with cerebellar ataxia.The pathogenesis of cerebellar ataxia may not involved mutations within exon 12 of human GluRδ2 gene." @default.
- W2380189162 created "2016-06-24" @default.
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- W2380189162 date "2009-01-01" @default.
- W2380189162 modified "2023-09-25" @default.
- W2380189162 title "Mutational Study of Exon 12 of Glutamate Receptor δ2 Gene in Patients with Cerebellar Ataxia" @default.
- W2380189162 hasPublicationYear "2009" @default.
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