The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype

INTRODUCTION: Dent disease is an X-linked recessive disorder associated with low molecular weight proteinuria (LMWP), nephrocalcinosis, kidney stones, and kidney failure in the third to fifth decade of life. It consists of Dent disease 1 (DD1) (60% of patients) because of pathogenic variants in the...

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Detalles Bibliográficos
Autores principales: Arnous, Muhammad G., Arroyo, Jennifer, Cogal, Andrea G., Anglani, Franca, Kang, Hee Gyung, Sas, David, Harris, Peter C., Lieske, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239918/
https://www.ncbi.nlm.nih.gov/pubmed/37284679
http://dx.doi.org/10.1016/j.ekir.2023.03.012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10239918/
https://www.ncbi.nlm.nih.gov/pubmed/37284679
http://dx.doi.org/10.1016/j.ekir.2023.03.012

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