Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.
T Morimoto, S Uchida, H Sakamoto… - Journal of the …, 1998 - journals.lww.com
Mutations in the CLCN5 gene have been demonstrated in three disorders of hypercalciuric
nephrolithiasis, ie, Dent's disease, X-linked recessive nephrolithiasis, and X-linked
recessive hypophosphatemic rickets. Recently, a number of Japanese children with low
molecular weight proteinuria (LMWP) showing symptoms similar to those shown by patients
with Dent's disease in British families have also been reported to have mutations in the
CLCN5 gene. The present study examines five unrelated Japanese families with LMWP, two …
nephrolithiasis, ie, Dent's disease, X-linked recessive nephrolithiasis, and X-linked
recessive hypophosphatemic rickets. Recently, a number of Japanese children with low
molecular weight proteinuria (LMWP) showing symptoms similar to those shown by patients
with Dent's disease in British families have also been reported to have mutations in the
CLCN5 gene. The present study examines five unrelated Japanese families with LMWP, two …
