نتایج جستجو برای: atp7b
تعداد نتایج: 482 فیلتر نتایج به سال:
Computing the Pathogenicity of Wilson’s Disease ATP7B Mutations: Implications for Disease Prevalence
Over the past two decades there have been significant advances in our understanding of copper homeostasis and the pathological consequences of copper dysregulation. Cumulative evidence is revealing a complex regulatory network of proteins and pathways that maintain copper homeostasis. The recognition of copper dysregulation as a key pathological feature in prominent neurodegenerative disorders ...
background wilson’s disease (wd) is a rare autosomal-recessive disorder characterized by a mutation in the atp7b gene, located on chromosome 13, which encodes a protein involved in the metabolism of copper. case presentation we described the case of an indian male with a history of polydipsia and polyuria, related to hypercalciuria and consequent nephrocalcinosis. the symptoms began at the age ...
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