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Article

Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences - 1 Dec 2015

Amvrosiadou Maria, Petropoulou Margarita, Poulou Myrto, Tzetis Maria, Kanavakis Emmanuel, Christopoulos Theodore K, Ioannou Penelope C

Abstract excerpt

Wilson's disease is an inherited disorder of copper transport in the hepatocytes with a wide range of genotype and phenotype characteristics. Mutations in the ATP7B gene are responsible for the disease. Approximately, over 500 mutations in the ATP7B gene have been described to date. We report a method for the simultaneous detection of the ten most common ATP7B gene mutations in Greek patients. The method...

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Adenosine Triphosphatases
Biosensing Techniques
Cation Transport Proteins
Copper-Transporting ATPases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotyping Techniques

Hepatolenticular Degeneration

Sensitivity and Specificity

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PMID: 26580967
DOI: 10.1016/j.jchromb.2015.10.036

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