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Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations

BACKGROUND: Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is characterized by congenital cataracts,...

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Detalles Bibliográficos
Autores principales:	Liu, Hequn, Barnes, Jesse, Pedrosa, Erika, Herman, Nathaniel S., Salas, Franklin, Wang, Ping, Zheng, Deyou, Lachman, Herbert M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212686/ https://www.ncbi.nlm.nih.gov/pubmed/32393163 http://dx.doi.org/10.1186/s11689-020-09317-2

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