A genetic study of Wilson's disease in the United Kingdom - Wikidata - awgldk - TriplyDB

A genetic study of Wilson's disease in the United Kingdom

A genetic study of Wilson's disease in the United Kingdom

http://www.wikidata.org/entity/Q36789573

about

Biomarkers for diagnosis of Wilson's disease Rapid and reliable diagnosis of Wilson disease using X-ray fluorescence.Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity Wilson's Disease in China.Cell therapy to remove excess copper in Wilson's disease.Analysis of human serum and whole blood for mineral content by ICP-MS and ICP-OES: development of a mineralomics method.When the penny drops.Wilson's disease and other neurological copper disorders.1H NMR-based metabolomics investigation of copper-laden rat: a model of Wilson's disease.Fourteen Years of Experience of Liver Transplantation for Wilson's Disease; a Report on 107 Cases from Shiraz, Iran Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.Currently Clinical Views on Genetics of Wilson's Disease Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening Phenotypic convergence of Menkes and Wilson disease.Concordance rates of Wilson's disease phenotype among siblings.Update on the clinical management of Wilson's disease.Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.Population screening for Wilson's disease.Geographic distribution of ATP7B mutations in Wilson disease.Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.Bioavailable Trace Metals in Neurological Diseases.Psychiatric comorbidity in Wilson's disease.Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation The genetics of Wilson disease.Dystonic Dysarthria in Wilson Disease: Efficacy of Zolpidem.Misidentification of Wilson Disease as Schizophrenia (1998-2013): Case Report and Review.Epidemiology, diagnosis, and treatment of Wilson's disease.Epidemiology and natural history of Wilson's disease in the Chinese: A territory-based study in Hong Kong between 2000 and 2016.Insights into the management of Wilson's disease.Osteoporosis and bone mineral density in patients with Wilson's disease: a systematic review and meta-analysis.Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease.Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.Pseudo-dominant inheritance in Wilson’s disease.[Diagnostics of Wilson's disease].Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.

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P2860

A genetic study of Wilson's disease in the United Kingdom

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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2013年论文

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2013年论文

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name

A genetic study of Wilson's disease in the United Kingdom

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A genetic study of Wilson's disease in the United Kingdom

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A genetic study of Wilson's disease in the United Kingdom

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A genetic study of Wilson's disease in the United Kingdom

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Aarno Palotie

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Ali Taha

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Alison J Coffey

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Ann Dalton

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Basil Sharrack

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David Nicholl

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Giorgina Mieli-Vergani

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Godfrey T Gillett

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Jennifer Emmerson

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P2860

Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

Mechanisms leading to uniparental disomy and their clinical consequences

An epidemiological study of Wilson's disease in the Republic of Ireland.

EASL Clinical Practice Guidelines: Wilson's disease.

Wilson's disease in Scotland.

Wilson's disease-cause of mortality in 164 patients during 1992-2003 observation period.

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

Mutational analysis for Wilson's disease.

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

Inferring causality and functional significance of human coding DNA variants.

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1476-1487

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10.1093/BRAIN/AWT035

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Pt 5

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136

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Oliver Bandmann

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2013-03-21T00:00:00Z

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