Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

BACKGROUND: Wilson's disease (WD) is an autosomal recessive genetic disease caused by mutations in ATP7B and characterized by copper metabolism disorders. METHODS: Direct sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method. Fourteen probands with WD an...

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Dettagli Bibliografici
Pubblicato in:Mol Genet Genomic Med
Autori principali: Qian, Zhiling, Cui, Xiongwei, Huang, Yunli, Liu, Yanmin, Li, Ning, Zheng, Sujun, Jiang, Jun, Cui, Shichang
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2019
Soggetti:
Clinical Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503029/
https://ncbi.nlm.nih.gov/pubmed/30884209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.649
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