A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.
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| Title: | A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis. |
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| Authors: | Ciampana V; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy., Corrado L; Department of Translational Medicine, Genetic Laboratory, Università del Piemonte Orientale (UPO), 28100 Novara, Italy.; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy., Magistrelli L; Parkinson Institute of Milan, ASST G.Pini-CTO, 20122 Milano, Italy., Contaldi E; Parkinson Institute of Milan, ASST G.Pini-CTO, 20122 Milano, Italy., Comi C; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy., D'Alfonso S; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy., Vecchio D; Neurology Unit, Department of Translational Medicine, Maggiore Della Carità Hospital, University of Piemonte Orientale, 28100 Novara, Italy.; Department of Health Sciences, Center on Autoimmune and Allergic Diseases (CAAD), University of Piemonte Orientale (UPO), 28100 Novara, Italy. |
| Source: | Genes [Genes (Basel)] 2024 Nov 29; Vol. 15 (12). Date of Electronic Publication: 2024 Nov 29. |
| Publication Type: | Case Reports; Journal Article |
| 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/genes15121556 |
