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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| Title: | 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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| Authors: | Kan SH; CHOC Children's Research Institute, Orange, CA, 92868, USA., Huang JY; CHOC Children's Research Institute, Orange, CA, 92868, USA., Harb J; CHOC Children's Research Institute, Orange, CA, 92868, USA., Rha A; CHOC Children's Research Institute, Orange, CA, 92868, USA., Dalton ND; CHOC Children's Research Institute, Orange, CA, 92868, USA., Christensen C; CHOC Children's Research Institute, Orange, CA, 92868, USA., Chan Y; School of Medicine, New York Medical College, Valhalla, NY, 10595, USA., Davis-Turak J; ROSALIND, San Diego, CA, 92126, USA., Neumann J; Transgenic Mouse Facility, University of California Irvine, Irvine, CA, 92697, USA., Wang RY; Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA, 92868, USA. rawang@choc.org.; Department of Pediatrics, University of California-Irvine, Irvine, CA, 92697, USA. rawang@choc.org. |
| Source: | Scientific reports [Sci Rep] 2022 Dec 14; Vol. 12 (1), pp. 21576. Date of Electronic Publication: 2022 Dec 14. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2045-2322 |
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| DOI: | 10.1038/s41598-022-25914-8 |
