title: Use of human genetic variation to study membrane transport of amino acids in kidney.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids / Q000652:urine*; D000818:Animals; D002648:Child; D003545:Cysteine / Q000652:urine; D005826:Genetics, Medical; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D008239:Lysine / Q000652:urine; D008297:Male; D009154:Mutation; D011392:Proline / Q000378:metabolism; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics / Q000378:metabolism*
chemical_list: D000596:Amino Acids; D011392:Proline; D008239:Lysine; D003545:Cysteine