ArticleWorld journal of pediatrics : WJP2017
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Article in World journal of pediatrics : WJP, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 2 citations in OpenAlex.
- Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.BMC gastroenterology · 2021Article
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10 authors at 2 institutions in 1 country.
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Abstract
backgroundWilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted.
resultsWe have identified four mutations in two family trios, of which two were novel, namely, c. 3028A>G (p. K1010E) and c.3992T>G (p.Y1331X), in each patient.
conclusionsGene testing is playing an important role in diagnosis of Wilson's disease. The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. Our findings further widen the spectrum of mutations involving the ATP7B gene.
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