Article
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Molecular genetics and metabolism - 1 Jan 2010
Bisceglia Luigi, Fischetti Lucia, Bonis Patrizia De, Palumbo Orazio, Augello Bartolomeo, Stanziale Pietro, Carella Massimo, Zelante Leopoldo
Abstract excerpt
Cystinuria is a rare inherited disorder characterized by defective renal reabsorption of cystine and the dibasic amino acids. SLC3A1 and SLC7A9 have been identified as responsible genes. The large majority of the more than 200 mutations so far identified in the two genes are point mutations, while only few alleles carrying gross genomic alterations have been reported. We screened 39 cystinuric patients for large...
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