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1.
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Hum Mutat
; 36(8): 743-52, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25907713
2.
Report of a family with two different hereditary diseases leading to early nephrocalcinosis.
Pediatr Nephrol
; 23(1): 149-53, 2008 Jan.
Article
in English
| MEDLINE | ID: mdl-17899212
3.
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
J Am Soc Nephrol
; 17(5): 1437-43, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16611712
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