Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

BACKGROUND: The importance of early diagnosis of 5q-Spinal muscular atrophy (5q-SMA) has heightened as early intervention can significantly improve clinical outcomes. In 96% of cases, 5q-SMA is caused by a homozygous deletion of SMN1. Around 4 % of patients carry a SMN1 deletion and a single-nucleot...

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Detalles Bibliográficos
Autores principales: Kleinle, Stephanie, Scholz, Veronika, Benet-Pagés, Anna, Wohlfrom, Tobias, Gehling, Stefanie, Scharf, Florentine, Rost, Simone, Prott, Eva-Christina, Grinzinger, Susanne, Hotter, Anna, Haug, Verena, Niemeier, Sabine, Wiethoff-Ubrig, Lucia, Hagenacker, Tim, Goldhahn, Klaus, von Moers, Arpad, Walter, Maggie C., Reilich, Peter, Eggermann, Katja, Kraft, Florian, Kurth, Ingo, Erdmann, Hannes, Holinski-Feder, Elke, Neuhann, Teresa, Abicht, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578226/
https://www.ncbi.nlm.nih.gov/pubmed/37424474
http://dx.doi.org/10.3233/JND-221668

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