Lysinuric protein intolerance: one gene, many problems.
Bröer
Stefan
S
School of Biochemistry and Molecular Biology, Australian National University, Canberra, ACT, Australia. stefan.broeer@anu.edu.au
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D027182:Amino Acid Transport System y+ / Q000235:genetics* / Q000378:metabolism; D027241:Amino Acid Transport System y+L; D000818:Animals; D027301:Fusion Regulatory Protein 1, Light Chains / Q000235:genetics* / Q000378:metabolism; D020869:Gene Expression Profiling / Q000379:methods; D005838:Genotype; D006801:Humans; D008239:Lysine / Q000652:urine*; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb / Q000235:genetics / Q000378:metabolism
D027182:Amino Acid Transport System y+; D027241:Amino Acid Transport System y+L; D027301:Fusion Regulatory Protein 1, Light Chains; C421261:SLC7A7 protein, human; C493558:Slc34a2 protein, mouse; C518287:Slc7a7 protein, mouse; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb; D008239:Lysine