Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy

New techniques in molecular genetic diagnostics now allow for accurate diagnosis in a large proportion of patients with muscular diseases. Nevertheless, many patients remain unsolved, although the clinical history and/or the muscle biopsy give a clear indication of the involved genes. In many cases,...

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Detalles Bibliográficos
Autores principales: Pluta, Natalie, Hoffjan, Sabine, Zimmer, Frederic, Köhler, Cornelia, Lücke, Thomas, Mohr, Jennifer, Vorgerd, Matthias, Nguyen, Hoa Huu Phuc, Atlan, David, Wolf, Beat, Zaum, Ann-Kathrin, Rost, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601614/
https://www.ncbi.nlm.nih.gov/pubmed/36292638
http://dx.doi.org/10.3390/genes13101752

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