Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

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OBJECTIVES: Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. METHODS: We applied short-read and full-length...

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Detalles Bibliográficos
Autores principales: Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A., Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy H., Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark H., Byers, Peter H. H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10409571/
https://www.ncbi.nlm.nih.gov/pubmed/37560121
http://dx.doi.org/10.1212/NXG.0000000000200090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10409571/
https://www.ncbi.nlm.nih.gov/pubmed/37560121
http://dx.doi.org/10.1212/NXG.0000000000200090

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