Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory

J Clin Pathol. 2020 Apr;73(4):231-234. doi: 10.1136/jclinpath-2019-206054. Epub 2019 Dec 3.

Authors

Kok-Siong Poon¹, Zhe Hao Teo², Jun Hean Yap², Evelyn Sc Koay³, Karen Tan⁴

Affiliations

¹ Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospital, Singapore.
² Ngee Ann Polytechnic, Singapore.
³ Department of Pathology, National University of Singapore, Singapore.
⁴ Molecular Diagnosis Centre, Department of Laboratory Medicine, National University Hospitals, Singapore karen_ml_tan@nuhs.edu.sg.

PMID: 31796634
DOI: 10.1136/jclinpath-2019-206054

No abstract available

Keywords: DIAGNOSIS; LABORATORY TESTS; MOLECULAR GENETICS.

Publication types

Review

MeSH terms

Copper-Transporting ATPases / genetics
Gene Deletion
Genetic Variation
Hepatolenticular Degeneration / diagnosis*
Heterozygote
Homozygote
Humans
Whole Genome Sequencing

Substances

ATP7B protein, human
Copper-Transporting ATPases