Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous genes have been implicated in these heterogeneous disorders; however, many individuals remain without a molecular diagnosis. Usin...

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Detalles Bibliográficos
Autores principales: Derksen, Alexa, Shih, Hung-Yu, Forget, Diane, Darbelli, Lama, Tran, Luan T., Poitras, Christian, Guerrero, Kether, Tharun, Sundaresan, Alkuraya, Fowzan S., Kurdi, Wesam I., Nguyen, Cam-Tu Emilie, Laberge, Anne-Marie, Si, Yue, Gauthier, Marie-Soleil, Bonkowsky, Joshua L., Coulombe, Benoit, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756503/
https://www.ncbi.nlm.nih.gov/pubmed/35047835
http://dx.doi.org/10.1016/j.xhgg.2021.100034

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