نتایج جستجو برای: rare mutations
تعداد نتایج: 402573 فیلتر نتایج به سال:
introduction: recent molecular studies on iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. we detected and explained the common mutations in north-western iran previously and detection of the ra...
Background and Aim: About 13 beta-globin mutations encompass 70-90% of the mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify the rare or unknown beta-globin mutations in Qazvin province. Materials and Methods: In this descriptive-analytic study, EDTA-containing venous blood...
Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters...
Background and purpose: Beta-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of beta-globin gene expression. This study aimed to find out and determine the spectrum of beta-globin gene mutations and especially rare mutation in beta-carrier couple in Babolsar, north region of Iran. This is very important in perinatal diagnosis of thalassemia. Materia...
Introduction: Recent molecular studies on Iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. Although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. We detected and explained the common mutations in north-western Iran previously and detection of the ra...
Background: Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth affected by this complication, prenatal screening and diagnosis is carried out nationwide. However in some instances, this program is unable to identify rare mutations leading to thalassemia. Case ...
beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in iran. aboute 13 beta globin mutations encompass 70-90% of mutations spectrum in iran, the rest are rare or unknown. in this study six mutations of the codon ivsi-130(g-c), fr16 (-c), codon35 (-c), fr23/24(-g), codon8 (+g) and codon 20 (gtg-gag) were recognized and added to spectrom of beta globin ...
We study compact non-supersymmetric Z N orbifolds in various dimensions. We compute the spectrum of several tachyonic type II and heterotic examples and partially classify tachyon-free heterotic models. We also discuss the relation to compactification on K3 and Calabi-Yau manifolds.
Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form of colorectal cancer and an autosomal dominant inheri...
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...
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