Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease

Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no...

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Detalles Bibliográficos
Autores principales: Suarez-Artiles, Lorena, Perdomo-Ramirez, Ana, Ramos-Trujillo, Elena, Claverie-Martin, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793168/
https://www.ncbi.nlm.nih.gov/pubmed/29300302
http://dx.doi.org/10.3390/genes9010015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793168/
https://www.ncbi.nlm.nih.gov/pubmed/29300302
http://dx.doi.org/10.3390/genes9010015

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