Fig. 3From: Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case reportThe novel missense mutation (c.346C > G, p.Leu116Val) identified in the patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. a. Wild type; b. Heterozygous mutation of p.Leu116Val; c. Homozygous mutation of p.Leu116ValBack to article page