Background and Aims: Congenital factor V (FV) deficiency is a rare bleeding disorder with 1 in 1000000 persons in the general population. Individuals with FV activity <1% and very low FV antigen levels are characterized as severe FV deficient patients. Little data is available about the molecular basis of this bleeding disorder in Iran. Materials and Methods: We analyzed 7 unrelated Iranian FV...

abstract   objective: in this study, we evaluated pten mutations in cowden disease and juvenile polyposis syndrome. pten mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type pten allele in the associated tumors was demonstrated. methods: out of 9 patients included in this study, 8 had juvenile polyposis and 1 had c...

In this paper we study the effect of rare mutations, driven by a marked point process, on the evolutionary behavior of a population. We derive a Kolmogorov equation describing the expected values of the different frequencies and prove some rigorous analytical results about their behavior. Finally, in a simple case of two different quasispecies, we are able to prove that the rarity of mutations ...

objective(s):familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. fmf affects mainly mediterranean populations and is caused by mutations in the familial mediterranean fever (mefv) gene. the aim of this study was to identify the frequency and distribution of mefv mutations in irani...

abstract       background and objective: hepatitis b virus (hbv) is a dna virus with high tendency toward hepatic tissue. there are currently about 3 million hbv-infected people and 350 to 400 million chronic carriers of this virus in the world. x protein plays a role in the over-expression of oncogenes, carcinogenicity of liver cells and overlaps with the basal core promoter of the virus. muta...

Background and Aim: Jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (G6PD) deficiency, some mutation types of which may be associated with severe neonatal icter. In this line, the present study has been conducted to compare G6PD mutations in incteric and non icteric neonates. Materials and Methods: This case-control study was imple...

background and aim: jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (g6pd) deficiency, some mutation types of which may be associated with severe neonatal icter. in this line, the present study has been conducted to compare g6pd mutations in incteric and non icteric neonates. materials and methods: this case-control study was impleme...