Associated Papers
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.
Steiner Mrázová L et al.
Human Mutation, 2026
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients.
Koens LH et al.
Journal of Inherited Metabolic Disease, 2022
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.
Yi F et al.
Jimd Reports, 2020
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Lepori MB et al.
Genetic Testing, 2007
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