Open AccessA novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosis
Author(s) -
Bahar Kulu,
Özlem Sancaklı,
Onur Sakallıoğlu
Publication year - 2018
Publication title -
rossijskij vestnik perinatologii i pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 4
eISSN - 2500-2228
pISSN - 1027-4065
DOI - 10.21508/1027-4065-2018-63-2-70-72
Subject(s) - nephrocalcinosis , hypercalciuria , tubulopathy , medicine , mutation , endocrinology , kidney disease , genetics , gastroenterology , gene , biology , kidney , excretion