Dysregulation of WTI (−KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation

Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies wi...

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Detalles Bibliográficos
Autores principales: Hall, Gentzon, Lane, Brandon, Chryst-Ladd, Megan, Wu, Guanghong, Lin, Jen-Jar, Qin, XueJun, Hauser, Elizabeth R., Gbadegesin, Rasheed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216339/
https://www.ncbi.nlm.nih.gov/pubmed/28059119
http://dx.doi.org/10.1038/srep39933

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216339/
https://www.ncbi.nlm.nih.gov/pubmed/28059119
http://dx.doi.org/10.1038/srep39933

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