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Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease
Fabry disease is an X-linked glycolipid storage disorder caused by mutations in the GLA gene which result in a deficiency in the lysosomal enzyme alpha galactosidase A (AGA). As a result, the glycolipid substrate Gb3 accumulates in critical tissues and organs producing a progressive debilitating dis...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9449667/ https://www.ncbi.nlm.nih.gov/pubmed/36092250 http://dx.doi.org/10.1016/j.ymgmr.2022.100914 |