AB094. Characteristic of ATP7B gene mutation in Vietnamese Wilson patients and asymptomatic diagnosis for their siblings

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by ATP7B gene mutation in the copper-transporting P-type ATPase. The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver...

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Sparad:
Bibliografiska uppgifter
I publikationen:Ann Transl Med
Huvudupphovsmän: Nguyen, Huong M. T., Nguyen, Hoa A. P., Nguyen, Mai P. T., Phan, Chi V., Ta, Van T., Ngo, Ngoc D.
Materialtyp: Artigo
Språk:Inglês
Publicerad: AME Publishing Company 2017
Ämnen:
Molecular Genetics, Genomics, Mechanisms of Diseases
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641731/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s094
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