Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
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| Title: | Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. |
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| Authors: | Dinatolo F; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., D'Antona L; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Procopio R; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, 88100 Catanzaro, Italy., Rocca V; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Lo Feudo E; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Martino S; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Dattola A; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Fabiani F; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Colao E; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Amato R; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Trapasso F; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Ruoppolo M; CEINGE-Biotecnologie Avanzate Franco Salvatore S.C.A R.L., 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy., Frisso G; CEINGE-Biotecnologie Avanzate Franco Salvatore S.C.A R.L., 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy., Concolino D; Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy., Perrotti N; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Viglietto G; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Iuliano R; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy. |
| Source: | Genes [Genes (Basel)] 2026 May 31; Vol. 17 (6). Date of Electronic Publication: 2026 May 31. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes17060649 |
