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Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, IGHMBP2, is well defined, information on IGH...

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Detalles Bibliográficos
Autores principales: Rzepnikowska, Weronika, Kaminska, Joanna, Kochański, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456350/
https://www.ncbi.nlm.nih.gov/pubmed/36077311
http://dx.doi.org/10.3390/ijms23179913

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