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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| ISSN: | 1573-2665 |
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| DOI: | 10.1002/jimd.70052 |
