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International journal of molecular sciences, ISSN 1422-0067, 01/2020, Volume 21, Issue 2, p. 516
Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5... 
dent disease | megalin | proximal tubular clc-5 expression | clcn5 gene mutations | kidney biopsies | immunohistochemistry | cubilin | whole exome sequencing
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 2016, Volume 11, Issue 12, pp. 2168 - 2176
Journal Article
Nephrology Dialysis Transplantation, ISSN 0931-0509, 2018, Volume 33, Issue 1, pp. 85 - 94
Background. Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic... 
d_article_not_yet_freely_accessible | Lowe syndrome | Nephrocalcinosis | Chronic kidney disease | OCRL | Dent-2 disease | chronic kidney disease | LOWE-SYNDROME | nephrocalcinosis | UROLOGY & NEPHROLOGY | SPECTRUM | DENT-DISEASE | TRANSPLANTATION | Clinical Medicine | Pediatrics | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Klinisk medicin
Journal Article
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