The Molecular Basis of Wilson Disease - The Molecular Basis of Wilson\u2019s Disease By Theres Alexander Alexis Lauren Robinson Jamie Weinstein-Delahunt 1

The Molecular Basis of Wilson Disease - The Molecular...

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The Molecular Basis of Wilson’s Disease By: Theres Alexander, Alexis Lauren Robinson, Jamie Weinstein-Delahunt 1
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What is Wilson’s Disease ? Introduction, Inheritance, Pathology 1 2
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Introduction Autosomal Recessive Inherited Genetic Disorder 1 in 30,000 Affected Affects ATP7B on Chromosome 13 Encodes copper transport protein ATPase2 Mutation → Accumulation of copper in the body. 3 Medicine, U. N. L. o. Wilson Disease. - inheritance (accessed 8, May 2019) Czlonkowska, A. et al. Wilson disease. Nat Rev Dis Primers 4 , 21, doi:10.1038/s41572-018-0018-3 (2018). Wilson Disease Assosiation. Wilson Disease Inheritance. (accessed 9, May 2019)
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4 Wilson’s Disease Inheritance Pattern
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Pathology 5 Acute Liver Failure Cirrhosis Fatty Liver Hepatomegaly [enlargement of liver] Edema Jaundice ● Menstrual Irregularities ● Pancreatitis ● Cardiomyopathy ● Fatigue ● Anema ● Arthritis Kidney Stones Lunulae Ceruleae Liver Clip Art. Digital Image. Pin Clipart. . Human Body Clipart. Digital Image. Clip Art Queen.
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Pathology 6 Involuntary Movements Drooling Rigid Dystonia Seizures Insomnia Depression Personality Changes Psychosis Neuroticism Pictured is a Kayser- Fleischer Ring, surrounding the colored part of the eye also known as the cornea Kayser Fleischer Ring. Digital Image. Wilson’s Disease Association. . Human Brain Clip Art. Digital Image. Kiss PNG.
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The Molecular Basis Causation of the Disorder 2 7
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Causation of Disorder Nonsense ATP7B protein → Impairment of copper transport protein ATPase 2.
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