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Title:          Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
Subject:        Scientific Reports, doi:10.1038/s41598-017-02554-x
Keywords:       
Author:         Camp#x000E8;lia Sintas
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     Item: 
      Title: Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
      Children: 
       Item: 
        Title: Results
        Children: 
         Item: 
          Title: Patients. 
         Item: 
          Title: Sequencing analysis of CACNA1A. 
         Item: 
          Title: CNV analysis of CACNA1A. 
         Item: 
          Title: Nonsense mediated mRNA decay (NMD) assay. 
       Item: 
        Title: Discussion
       Item: 
        Title: Methods
        Children: 
         Item: 
          Title: Patients. 
         Item: 
          Title: Sampling and mutation screening. 
         Item: 
          Title: CNV analysis. 
         Item: 
          Title: Nonsense-mediated mRNA decay (NMD) assay. 
       Item: 
        Title: Acknowledgements
       Item: 
        Title: Figure 1 CACNA1A gene and protein structure with the identified pathogenic variants.
       Item: 
        Title: Figure 2 Pedigrees from individuals with identified changes.
       Item: 
        Title: Figure 3 CNV studies in the CACNA1A gene of patient 474.
       Item: 
        Title: Table 1 Clinical information and results from the CACNA1A mutational screening in episodic ataxia patients with identified variants.
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   Type: CRC32
  Checksum: b5be2b1669950d2bc272323cf80dd552
   Type: MD5
  Checksum: ee7841d8a0e9ba8a843624ef15db08af4a1905fa
   Type: SHA-1