Associated Papers
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.
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International Journal of Molecular Sciences, 2025
40725177 (PubMed )
Supplement: ijms-26-06929-s001.zip › ijms-3724192-supplementary.xlsx › Supplementary_Table3
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
Sperandeo MP et al.
European Journal of Human Genetics : Ejhg, 2005
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2005
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
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