Genetic and clinical features of cerebellar ataxia with rfc1 biallelic repeat expansions in japan

HIGHLIGHTS

  • who: Hiroshi Takashima from the The University of Auckland, Australia, Australia have published the article: Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan, in the Journal: (JOURNAL)
  • how: The clinical data were obtained by review of the clinical notes in each medical clinics and institutions. The authors conducted haplotype analysis using SNPs enrolled by a previous Japanese study . This result was consistent with the results of another report on Japanese CANVAS cases .

SUMMARY

    Workflow has been described previously. At this locus of RFC1, in addition . . .

     

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