Associated Papers
A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.
Wang Y et al.
Heliyon, 2024
Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient.
Liu A et al.
Biomed Research International, 2022
Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Contreras JL et al.
Frontiers in Pediatrics, 2021
Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies.
Gopalakrishnan C et al.
Journal of Cellular Biochemistry, 2019
Analysis of LPI-causing mutations on y+LAT1 function and localization.
Rotoli BM et al.
Orphanet Journal of Rare Diseases, 2019
Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.
Evelina M et al.
Jimd Reports, 2015
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M et al.
European Journal of Human Genetics : Ejhg, 2009
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M et al.
Human Genetics, 2008
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
Mykkänen J et al.
Human Molecular Genetics, 2000
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Sperandeo MP et al.
American Journal of Human Genetics, 2000
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
Noguchi A et al.
Human Mutation, 2000
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Torrents D et al.
Nature Genetics, 1999
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