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CRISPR-Mediated Generation and Characterization of a Gaa Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease

2022-06-22

Abstract excerpt

Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant, the most frequent GAA pathogenic mutation in people of Taiwanese and Southern Chinese ethnicity, causes infantile-onset Pompe disease (IOPD), presenting neonatally with seve...

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Literature Corpus work
d51421b8-552b-5926-a013-ec76a52e8ecf
DOI
10.21203/rs.3.rs-1735037/v1
Open publication

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CRISPR-Mediated Generation and Characterization of a Gaa Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe DiseaseDOI 10.21203/rs.3.rs-1735037/v1
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