Wilson’s disease. Theme update

Authors

  • Yulia Clark Feoktistova Universidad de Ciencias Médicas de Guantánamo

Keywords:

Wilson disease, atp7b gene, clinical diagnosis, molecular diagnostic, mutation

Abstract

Wilson’s disease is a world health problem. It is a hereditary disease that could cause irreversible lesions in the liver and brain and lead to patient’s death if it is not adequately treated. The clinical diagnosis is achieved using several biochemical tests. Molecular causes provoking it are the mutations in the atp7b gene, and there have been informed more than 500. The molecular diagnosis is difficult. The difficulty of the clinical and molecular diagnosis was explained in this work.

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Author Biography

Yulia Clark Feoktistova, Universidad de Ciencias Médicas de Guantánamo

Investigador agregado.

Profesor asistente.

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Published

2016-01-13

How to Cite

1.
Clark Feoktistova Y. Wilson’s disease. Theme update. Rev Méd Electrón [Internet]. 2016 Jan. 13 [cited 2025 Jan. 22];38(1):57-66. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/1398

Issue

Vol. 38 No. 1 (2016)

Section

Review article

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