Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. [electronic resource]
- Nature genetics Sep 1999
- 52-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1061-4036
10.1038/12652 doi
Amino Acid Sequence Amino Acid Transport Systems, Basic Animals COS Cells Carrier Proteins--genetics Chromosomes, Human, Pair 19 Cystinuria--ethnology DNA, Complementary--analysis Female Frameshift Mutation Humans Italy Jews Libya Male Membrane Glycoproteins--genetics Models, Biological Molecular Sequence Data Mutation, Missense North America Pedigree Sequence Homology, Amino Acid Spain Tissue Distribution