Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

Abdul Khaliq Naveed; Asifa Majeed; Sumreena Mansoor

Journal ArticleOPEN ACCESS

Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

Naveed A
Majeed A
Mansoor S

International Journal of Biology (2010) 2(1)

DOI: 10.5539/ijb.v2n1p117

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Abstract

Wilson disease (WND) is an autosomal recessive disorder caused by mutation in ATP7B gene that impairs copper metabolism. ATP7B is involved in the transport of copper into the plasma protein ceruloplasmin and copper excretion out of the liver. Defects in ATP7B lead to …

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APA

Naveed, A. K., Majeed, A., & Mansoor, S. (2010). Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication. International Journal of Biology, 2(1). https://doi.org/10.5539/ijb.v2n1p117

Spectrum of ATP7B Gene Mutations in Pakistani Wilson Disease Patients: A Novel Mutation Is Associated with Severe Hepatic and Neurological Complication

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