ArticleWorld journal of gastroenterology2007
Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
Article in World journal of gastroenterology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.Cells · 2024Review
- Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.Orphanet journal of rare diseases · 2022Article
- Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.BMC gastroenterology · 2021Article
- Mutational analysis of ATP7B in Chinese Wilson disease patients.American journal of translational research · 2016Article
- Article
- Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.World journal of pediatrics : WJP · 2013Article
- Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.BMC medical genetics · 2011Article
- High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.World journal of gastroenterology · 2008Article
- Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.World journal of gastroenterology · 2008Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics.
methodsMutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin.
resultsTwo novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found.
conclusionGene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.
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