multiplex arms pcr to detect 8 common mutations of atp7b gene in patients with wilson disease

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

BACKGROUND Wilson disease is a rare disorder of copper metabolism due to mutation in ATP7B gene. Proper counseling of patients with Wilson disease, and their families necessitates finding mutation in ATP7B gene. Finding mutations in ATP7B gene with 21 exons, and more than 500 mutations is expensive and time-consuming. OBJECTIVES The aim of this study was to provide a simple multiplex amplific...

Novel mutations in ATP7B gene of Wilson\'s disease in Iranian patients

Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...

prevalence of atp7b gene mutations in iranian patients with wilson disease

novel mutations in atp7b gene of wilson's disease in iranian patients

bacground: wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. the disorder is caused by mutations in the atp7b gene, encoding a copper transporting p-type atpase. characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families.materials and methods: we en...

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease

BACKGROUND Wilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the liver and brain. OBJECTIVES We examined the ATP7B mutation spectrum in Wilson disease patients in Iran. ...

common polymorphisms of atp7b gene as a good marker in linkage analysis in wilson disease patients from southern iran

background: wilson disease (wd) is caused by numerous pathogenic mutations of the atp7b gene. there are several mutation screening methods that can be used for the diagnosis and carrier detection of wd, however such methods are costly and time-consuming. therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis. objective: to report common polymorphisms...