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Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase
The Lowe syndrome (LS) is a life-threatening, developmental disease characterized by mental retardation, cataracts and renal failure. Although this human illness has been linked to defective function of the phosphatidylinositol 5-phosphatase, Ocrl1 (Oculo-Cerebro-Renal syndrome ofLowe protein1), the...
Autores principales: | Coon, Brian G., Mukherjee, Debarati, Hanna, Claudia B., Riese, David J., Lowe, Martin, Aguilar, R. Claudio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7289333/ https://www.ncbi.nlm.nih.gov/pubmed/19700499 http://dx.doi.org/10.1093/hmg/ddp407 |
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