TY - GEN AU - Bisceglia,Luigi AU - Fischetti,Lucia AU - De Bonis,Patrizia TI - Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuria SN - 1432-1203 PY - 2011///0506 KW - Amino Acid Transport Systems, Basic KW - genetics KW - Amino Acid Transport Systems, Neutral KW - Base Sequence KW - Cystinuria KW - Exons KW - Heterozygote KW - Humans KW - Italy KW - Sequence Deletion N1 - Publication Type: Journal Article ER -