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- W2361330356 abstract "Objective To study the gene mutation characteristics of patients with spinocerebellar ataxias(SCA) in Ningxia region.Methods The SCA3/Machado-Joseph disease(MJD)trinucleotide CAG repeat number was detected by polymerase chain reaction(PCR),capillary gel electrophoresis(CGE) and DNA sequencing in 6 patients with SCAs and 4 normal kindreds from a family in Ningxia region.Results All patients and 1 kindred were positive for SCA3/MJD;other 3 kindreds were negative for SCA3/MJD.The CAG repeat number was expanded to 66～81 in the patients with SCA3/MJD and a kindred,and 22～33 in other 3 kindreds.Conclusion There is SCA3/MJD in the patients with SCAs of Ningxia region.Gene examining has the great significance for definite diagnosis in the patients with SCAs." @default.
- W2361330356 created "2016-06-24" @default.
- W2361330356 creator A5080109361 @default.
- W2361330356 date "2008-01-01" @default.
- W2361330356 modified "2023-09-25" @default.
- W2361330356 title "Study on gene mutation characteristics of a spinocerebellar ataxias family in Ningxia region" @default.
- W2361330356 hasPublicationYear "2008" @default.
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