Whole-exome sequencing of the mummified remains of cangrande della scala (1291-1329 ce) indicates the first known case of late-onset pompe disease

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• who: Barbara Iadarola from the DepartmentUniversity of have published the research work: Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease, in the Journal: Scientific Reports Scientific Reports
• how: The authors identified additional variants in genes correlating with the regulatory activity of lysosomal ­enzymes13 besides 28 variants which were common in the frequency population databases (MAF > 5%) six rare exonic missense variants were present in the ATP6 gene and one rare exonic missense variant was present in the RUNX1 gene . . .
  

   

  

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