Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

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Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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Novel compound heterozygote mu ...... Wilson disease: a case report.

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Novel compound heterozygote mu ...... Wilson disease: a case report.

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Item

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Novel compound heterozygote mu ...... Wilson disease: a case report.

@en

Novel compound heterozygote mu ...... Wilson disease: a case report.

@nl

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Novel compound heterozygote mu ...... Wilson disease: a case report.

@en

Novel compound heterozygote mu ...... Wilson disease: a case report.

@nl

P1476

Novel compound heterozygote mu ...... Wilson disease: a case report.

@en

P2093

Omid Daneshjoo

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P2860

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

Consequences of copper accumulation in the livers of the Atp7b-/- (Wilson disease gene) knockout mice

Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.

Molecular pathology of Wilson's disease: a brief.

Copper induces hepatocyte injury due to the endoplasmic reticulum stress in cultured cells and patients with Wilson disease.

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.

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s13256-018-1608-0

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scholarly article

case report

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10.1186/S13256-018-1608-0

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English

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Masoud Garshasbi

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2018-03-15T00:00:00Z

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1101305014

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29540233

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5853083

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