Wilson's disease: Difference between revisions
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Created page with "Wilson disease is an inheritable autosomal [https://teaching.ncl.ac.uk/bms/wiki/index.php/Autosomal_recessive_disease recessive disorder ]and is a result of mutations in the APT7..." |
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Wilson disease is an inheritable autosomal [https://teaching.ncl.ac.uk/bms/wiki/index.php/Autosomal_recessive_disease recessive disorder ]and is a result of mutations in the APT7B gene. The APT7B gene encodes a protein required to remove surplus copper from the body, mutations in this gene reduce the functionality of the transport protein resulting in harmful accumulation of copper in the body [http://ghr.nlm.nih.gov/condition/wilson-disease http://ghr.nlm.nih.gov/condition/wilson-disease]. | Wilson disease is an inheritable autosomal [https://teaching.ncl.ac.uk/bms/wiki/index.php/Autosomal_recessive_disease recessive disorder ]and is a result of mutations in the APT7B gene. The APT7B gene encodes a protein required to remove surplus copper from the body, [[Mutations|mutations]] in this gene reduce the functionality of the transport protein resulting in harmful accumulation of copper in the body [http://ghr.nlm.nih.gov/condition/wilson-disease http://ghr.nlm.nih.gov/condition/wilson-disease]. | ||
Revision as of 17:28, 2 December 2015
Wilson disease is an inheritable autosomal recessive disorder and is a result of mutations in the APT7B gene. The APT7B gene encodes a protein required to remove surplus copper from the body, mutations in this gene reduce the functionality of the transport protein resulting in harmful accumulation of copper in the body http://ghr.nlm.nih.gov/condition/wilson-disease.