A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT.
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| Title: | A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT. |
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| Authors: | Ruta L; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Cogal AG; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA., Pampalone G; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Sas DJ; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Lieske JC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Rumsby G; University College London Hospitals, London, UK., Cellini B; Department of Medicine and Surgery, University of Perugia, Perugia, Italy., Harris PC; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jul; Vol. 48 (4), pp. e70052. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40495747 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ruta+L%22">Ruta L</searchLink>; Department of Medicine and Surgery, University of Perugia, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Cogal+AG%22">Cogal AG</searchLink>; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Pampalone+G%22">Pampalone G</searchLink>; Department of Medicine and Surgery, University of Perugia, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Sas+DJ%22">Sas DJ</searchLink>; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Division of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Lieske+JC%22">Lieske JC</searchLink>; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Rumsby+G%22">Rumsby G</searchLink>; University College London Hospitals, London, UK.<br /><searchLink fieldCode="AU" term="%22Cellini+B%22">Cellini B</searchLink>; Department of Medicine and Surgery, University of Perugia, Perugia, Italy.<br /><searchLink fieldCode="AU" term="%22Harris+PC%22">Harris PC</searchLink>; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2025 Jul; Vol. 48 (4), pp. e70052. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40495747 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jimd.70052 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e70052 Titles: – TitleFull: A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ruta L – PersonEntity: Name: NameFull: Cogal AG – PersonEntity: Name: NameFull: Pampalone G – PersonEntity: Name: NameFull: Sas DJ – PersonEntity: Name: NameFull: Lieske JC – PersonEntity: Name: NameFull: Rumsby G – PersonEntity: Name: NameFull: Cellini B – PersonEntity: Name: NameFull: Harris PC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2025 Jul Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1573-2665 Numbering: – Type: volume Value: 48 – Type: issue Value: 4 Titles: – TitleFull: Journal of inherited metabolic disease Type: main |
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