Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós
Mariona
M
IDIBELL, Centre de Genètica Mèdica i Molecular, Gran Via km 2,7, s/n, 08907 L'Hospitalet de Llobregat, Spain. mfont@idibell.org
Nunes
Virginia
V
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D027241:Amino Acid Transport System y+L; D003062:Codon / Q000235:genetics*; D005091:Exons; D027301:Fusion Regulatory Protein 1, Light Chains / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008239:Lysine / Q000652:urine*
D027241:Amino Acid Transport System y+L; D003062:Codon; D027301:Fusion Regulatory Protein 1, Light Chains; C421261:SLC7A7 protein, human; D008239:Lysine