Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
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Publisher
Cairo, Egypt: Hindawi Publishing Corporation
Journal title
Language
English
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Publication information
Publisher
Cairo, Egypt: Hindawi Publishing Corporation
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Scope and Contents
Contents
Objective. Wilson’s disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a time-saving, cost-effective method for full sequencing of...
Alternative Titles
Full title
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease
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TN_cdi_doaj_primary_oai_doaj_org_article_26f9d746bdb347b389422ef8fe2cb9a1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_26f9d746bdb347b389422ef8fe2cb9a1
Other Identifiers
ISSN
1687-6121
E-ISSN
1687-630X
DOI
10.1155/2016/4548039
