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Article

Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.

European journal of pediatrics - 1 Feb 2002

Ohya Kazuhiro, Abo Wataru, Tamaki Hisamitsu, Sugawara Chieko, Endo Tetsuya, Nomachi Shosuke, Fukushi Masaru, Kinebuchi Miyuki, Matsuura Akihiro

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Pedigree
Adenosine Triphosphatases
DNA Mutational Analysis
Genetic Testing
Hepatolenticular Degeneration
Prognosis

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PMID: 11954751
DOI: 10.1007/s00431-001-0865-9

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Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.PMID 11954751Read ↗

Clinical molecular diagnosis of Wilson disease.Semantic proximity Read ↗

Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency.Semantic proximity Read ↗

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.Semantic proximity Read ↗

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.Semantic proximity Read ↗

Pitfalls in diagnosing Wilson's Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene.Semantic proximity Read ↗

Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.Semantic proximity Read ↗

Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.Semantic proximity Read ↗

Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.Semantic proximity Read ↗

An incidental heterozygous ATP7B nonsense variant leading to a diagnostic pitfall for Wilson disease: a pediatric case reportSemantic proximity Read ↗

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.Semantic proximity Read ↗

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.Semantic proximity Read ↗

[Advances in the molecular diagnosis of Wilson's disease].Semantic proximity Read ↗

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