Publication Date:
2012-10-11
Description:
An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes European Journal of Human Genetics advance online publication, October 10 2012. doi:10.1038/ejhg.2012.225 Authors: Maria Addis, Cristiana Meloni, Enrica Tosetto, Monica Ceol, Rosalba Cristofaro, Maria Antonietta Melis, Paolo Vercelloni, Dorella Del Prete, Giuseppina Marra & Franca Anglani
Keywords:
Dent’s diseaseLowe syndromeCLCN5 geneOCRL1 genedigenic inheritanceepistatic interaction
Print ISSN:
1018-4813
Electronic ISSN:
1476-5438
Topics:
Biology
,
Medicine