Associated Papers
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee BH et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2011
[Complexity of the diagnosis of Wilson disease in clinical practice: our experience in 15 patients].
Huarte-Muniesa MP et al.
Gastroenterologia Y Hepatologia, 0
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