prevalence of atp7b gene mutations in iranian patients with wilson disease
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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...
full textPrevalence 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. ...
full textnovel 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...
full textmultiplex arms pcr to detect 8 common mutations of atp7b gene in patients with wilson disease
results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...
full textMultiplex 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...
full textNovel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
BACKGROUND Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are ...
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Journal title:
hepatitis monthlyجلد ۱۱، شماره ۱۱، صفحات ۸۹۰-۸۹۴
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