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Complexity of the 5′UTR region of the CLCN5 gene: eleven 5′UTR ends are differentially expressed in the human kidney

BACKGROUND: Dent disease 1 represents a hereditary disorder of renal tubular epithelial function associated with mutations in the CLCN5 gene that encoded the ClC-5 Cl(-)/H(+) antiporter. All of the reported disease-causing mutations are localized in the coding region except for one recently identifi...

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Detalles Bibliográficos
Autores principales: Tosetto, Enrica, Casarin, Alberto, Salviati, Leonardo, Familiari, Alessandra, Lieske, John C, Anglani, Franca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105828/
https://www.ncbi.nlm.nih.gov/pubmed/25001568
http://dx.doi.org/10.1186/1755-8794-7-41