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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36517654 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: 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. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kan+SH%22">Kan SH</searchLink>; CHOC Children's Research Institute, Orange, CA, 92868, USA.<br /><searchLink fieldCode="AU" term="%22Huang+JY%22">Huang JY</searchLink>; CHOC Children's Research Institute, Orange, CA, 92868, USA.<br /><searchLink fieldCode="AU" term="%22Harb+J%22">Harb J</searchLink>; CHOC Children's Research Institute, Orange, CA, 92868, USA.<br /><searchLink fieldCode="AU" term="%22Rha+A%22">Rha A</searchLink>; CHOC Children's Research Institute, Orange, CA, 92868, USA.<br /><searchLink fieldCode="AU" term="%22Dalton+ND%22">Dalton ND</searchLink>; CHOC Children's Research Institute, Orange, CA, 92868, USA.<br /><searchLink fieldCode="AU" term="%22Christensen+C%22">Christensen C</searchLink>; CHOC Children's Research Institute, Orange, CA, 92868, USA.<br /><searchLink fieldCode="AU" term="%22Chan+Y%22">Chan Y</searchLink>; School of Medicine, New York Medical College, Valhalla, NY, 10595, USA.<br /><searchLink fieldCode="AU" term="%22Davis-Turak+J%22">Davis-Turak J</searchLink>; ROSALIND, San Diego, CA, 92126, USA.<br /><searchLink fieldCode="AU" term="%22Neumann+J%22">Neumann J</searchLink>; Transgenic Mouse Facility, University of California Irvine, Irvine, CA, 92697, USA.<br /><searchLink fieldCode="AU" term="%22Wang+RY%22">Wang RY</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2022 Dec 14; Vol. 12 (1), pp. 21576. <i>Date of Electronic Publication: </i>2022 Dec 14. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101563288 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2045-2322 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220452322%22">20452322 </searchLink><i>NLM ISO Abbreviation: </i>Sci Rep <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36517654 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s41598-022-25914-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 21576 Titles: – TitleFull: 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. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kan SH – PersonEntity: Name: NameFull: Huang JY – PersonEntity: Name: NameFull: Harb J – PersonEntity: Name: NameFull: Rha A – PersonEntity: Name: NameFull: Dalton ND – PersonEntity: Name: NameFull: Christensen C – PersonEntity: Name: NameFull: Chan Y – PersonEntity: Name: NameFull: Davis-Turak J – PersonEntity: Name: NameFull: Neumann J – PersonEntity: Name: NameFull: Wang RY IsPartOfRelationships: – BibEntity: Dates: – D: 14 M: 12 Text: 2022 Dec 14 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 2045-2322 Numbering: – Type: volume Value: 12 – Type: issue Value: 1 Titles: – TitleFull: Scientific reports Type: main |
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