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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2018
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| 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 |