Article
A mouse model for cystinuria type I.
Human molecular genetics - 1 Sept 2003
Peters T, Thaete C, Wolf S, Popp A, Sedlmeier R, Grosse J, Nehls M C, Russ A, Schlueter V
Abstract excerpt
Cystinuria, one of the most common inborn errors of metabolism in humans, accounts for 1-2% of all cases of renal lithiasis. It is caused by defects in the heterodimeric transporter system rBAT/b0,+AT, which lead to reduced reabsorption of cystine and dibasic amino acids through the epithelial cells of the renal tubules and the intestine. In an N-ethyl-N-nitrosourea mutagenesis screen for recessive mutations we...
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