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Article

[A novel mutation in ATP7B gene associated with severe neurological impairment in Wilson's disease].

Revue neurologique - 1 May 2010

Elleuch N, Feki I, Turki E, Miladi M I, Boukhris A, Damak M, Mhiri C, Chappuis E, Woimant F

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Share to Adenosine Triphosphatases
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Identifiers

PMID: 20036408
DOI: 10.1016/j.neurol.2009.10.008

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[A novel mutation in ATP7B gene associated with severe neurological impairment in Wilson's disease].PMID 20036408Read ↗

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

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[Phenotype and genotype analysis of 55 children patients with Wilson's disease].Semantic proximity Read ↗

[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B].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 ↗

Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.Semantic proximity Read ↗

Exploring the pathogenesis of a compound heterozygous variant in ATP7B associated with Wilson disease in an Iranian family.Semantic proximity Read ↗

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