From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
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| Title: | From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene. |
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| Authors: | Pyromali I; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France., Benslimane N; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France., Favreau F; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Goizet C; Centre Hospitalo-Universitaire (CHU) Bordeaux-GH Pellegrin Tripode, Service de Génétique Médicale, F-33076 Bordeaux, France., Lazaro L; Centre Hospitalier (CH) de la Côte Basque, F-64100 Bayonne, France., Vitry M; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Derouault P; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Bioinformatique, F-87000 Limoges, France., Sturtz F; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Magdelaine C; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Lia AS; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Bioinformatique, F-87000 Limoges, France. |
| Source: | Journal of personalized medicine [J Pers Med] 2022 Feb 03; Vol. 12 (2). Date of Electronic Publication: 2022 Feb 03. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2075-4426 |
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| DOI: | 10.3390/jpm12020212 |
