Article
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Clinical journal of the American Society of Nephrology : CJASN - 7 Jul 2015
Rhodes Hannah L, Yarram-Smith Laura, Rice Sarah J, Tabaksert Ayla, Edwards Noel, Hartley Alice, Woodward Mark N, Smithson Sarah L, Tomson Charles, Welsh Gavin I, Williams Margaret, Thwaites David T, Sayer John A, Coward Richard J M
Abstract excerpt
BACKGROUND AND OBJECTIVES: Cystinuria is a rare inherited renal stone disease. Mutations in the amino acid exchanger System b(0,+), the two subunits of which are encoded by SLC3A1 and SLC7A9, predominantly underlie this disease. The work analyzed the epidemiology of cystinuria and the influence of mutations in these two genes on disease severity in a United Kingdom cohort. DESIGN, SETTING, PARTICIPANTS, &...
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