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Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652.
Nat Genet. 1999.
PMID: 10471498
Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
Endsley JK, Phillips JA 3rd, Hruska KA, Denneberg T, Carlson J, George AL Jr.
Endsley JK, et al.
Kidney Int. 1997 Jun;51(6):1893-9. doi: 10.1038/ki.1997.258.
Kidney Int. 1997.
PMID: 9186880
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