Konu "CLCN5" için Fakülteler / Faculties listeleme
Toplam kayıt 2, listelenen: 1-2
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A novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosis
(2018)Dent's disease-1 (CLCN5 gene) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure ... -
A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis
(2018)Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in ...