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Galehdari, H., Tangestani, R. (2012). Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran. Iranian Journal of Pathology, 7(4), 262-266.
Hamid Galehdari; Raheleh Tangestani. "Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran". Iranian Journal of Pathology, 7, 4, 2012, 262-266.
Galehdari, H., Tangestani, R. (2012). 'Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran', Iranian Journal of Pathology, 7(4), pp. 262-266.
Galehdari, H., Tangestani, R. Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran. Iranian Journal of Pathology, 2012; 7(4): 262-266.

Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran

Article 11, Volume 7, Issue 4, Summer 2012, Page 262-266  XML PDF (289.09 K)
Document Type: Case Reports
Authors
Hamid Galehdari email 1; Raheleh Tangestani2
1Dept. of Genetics, Shahid Chamran University, Ahvaz, Iran
2Toxicology Research Centre, Jundishapur University of Medical Science, Ahvaz, Iran
Abstract
Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to 500 mutations were found in the ATP7B gene that weaken or fully disrupt the function of the gene product. Recurrent mutations were found in different population. We found a homozygous pathogenic missense mutation at codon 778 (R778W) in an individual from southwest Iran. This mutation has been reported in previous studies in the continents America and Europe. The present study is the first report from Wilson disease that has been diagnosed in southwest Iran. This mutation has been shown in previous studies in patients from continents America and Europe.  
 
Keywords
Wilson Disease; ATP7B Cu-binding P type ATPase; Iran
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