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Investigation of DNA variants specific to ROBO2 Isoform ‘a’ in Irish vesicoureteric reflux patients reveals marked CpG island variation

ROBO2 gene disruption causes vesicoureteric reflux (VUR) amongst other congenital anomalies. Several VUR patient cohorts have been screened for variants in the ubiquitously expressed transcript, ROBO2b, but, apart from low levels in a few adult tissues, ROBO2a expression is confined to the embryo, a...

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Detalles Bibliográficos
Autores principales: Darlow, John M., Dobson, Mark G., Green, Andrew J., Puri, Prem, Barton, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010700/
https://www.ncbi.nlm.nih.gov/pubmed/32041992
http://dx.doi.org/10.1038/s41598-020-58818-6