PMID 19782624 2010 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.
PMID 7573036 1995 Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.
PMID 16138908 2005 Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
PMID 7539209 1995 Mutations in the SLC3A1 transporter gene in cystinuria.
PMID 16609684 2006 A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
PMID 12234283 2002 Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
PMID 9186880 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.