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The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects
BACKGROUND: Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of internalized TfRs to the cell surface and dense-core vesicle maturation. However, the...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381738/ https://www.ncbi.nlm.nih.gov/pubmed/30828385 http://dx.doi.org/10.1186/s13039-019-0421-9 |