Crispr-mediated generation and characterization of a gaa homozygous c.1935c>a (p.d645e) pompe disease knock-in mouse model recapitulating human infantile onset-pompe disease

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• who: Shih-hsin Kan from the School University of have published the article: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease, in the Journal: Scientific Reports Scientific Reports
• what: The results were consistent with the other findings from this study, showing that the HET group had close to 50% of the level of enzymatic activity observed in the WT group in each muscle tissue and brain tissue sample tested, indicating that the one WT allele produced functional . . .
  

   

  

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