Concepedia

Neurological manifestations and ATP7B mutations in Wilson's disease

Alexandre Aluízio Costa Machado, Marta Mitiko Deguti, Janine Genschel, Eduardo Luiz Rachid Cançado, Bettina Bochow, Hartmut Schmidt, Egberto Reis Barbosa

Parkinsonism & Related Disorders · 2007 · 26 citations · 11 references

DOI

Concepts

References

11

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

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A fast method for high-quality genomic DNA extraction from whole human blood.

Stefano Gustincich, Guidalberto Manfioletti, Giannino Del Sal et al. · PubMed · 1991 · 606 citations

, , +10

The Wilson disease gene: spectrum of mutations and their consequences

Gordon R. Thomas, John Forbes, Eve A. Roberts et al. · Nature Genetics · 1995 · 571 citations

, , +12

Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Anjali B. Shah, Hong Tao Zhang, Barbara M. Ross et al. · The American Journal of Human Genetics · 1997 · 353 citations · Full text

, , +17

Neurological manifestations in Wilson's disease: Report of 119 cases

Alexandre Alves Machado, Hsin Fen Chien, Marta Mitiko Deguti et al. · Movement Disorders · 2006 · 281 citations

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