Associated Papers
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Juliá-Palacios N et al.
Brain Communications, 2025
41040850 (PubMed )
Supplement: fcaf348_supplementary_data.zip › Supplementary_Tables_1-6.xlsx › Suppl._Table2
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
31059521 (PubMed )
Supplement: pone.0215779.s001.pdf
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
Loudianos G et al.
Human Genetics, 1996
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.
Figus A et al.
American Journal of Human Genetics, 1995
Select a paper to view details