ArticleMolecular genetics & genomic medicine2019
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 21 citations in OpenAlex.
- The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.Orphanet journal of rare diseases · 2026Article
- Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.Journal of assisted reproduction and genetics · 2023Article
- [Two cases of hepatolenticular degeneration caused by combined R778L and P992L mutation].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2021Article
- A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in theFrontiers in genetics · 2020Article
- Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundWilson's disease (WD) is an autosomal recessive genetic disease caused by mutations in ATP7B and characterized by copper metabolism disorders.
methodsDirect sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method. Fourteen probands with WD and 12 family members participated in this study. The ATP7B gene was analyzed by direct sequencing.
resultsTwenty-nine different variants (27 substitutions, 1 duplication, 1 deletion) were found. Of the 23 reported variants, nine nondisease variants, 11 disease variants, one silent variant, and two variants with uncertain functions were identified. The six novel variants included c.1875T>A, c.2306T>C, c.3028A>G, c.3243G>A, c.3437_3438 delTG, and c.3903+5G>A.
conclusionThese findings will assist in the diagnosis of WD. The novel variants have enriched the WD database.
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