نتایج جستجو برای: new mutation
تعداد نتایج: 2104375 فیلتر نتایج به سال:
how to cite this article: shalbafan b. a family case report of niemman pick c with new mutation and different presentations. iran j child neurol. 2015 autumn;9:4(suppl.1): 20-21. pls see pdf.
ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
Introduction: The Brugada syndrome (BrS) belongs to cardiac arrhythmia disorders that is seen on the echocardiogram bands and is a significant cause of sudden death in young adults. At the molecular level, mechanisms that contribute to BrS are mutations in genes that encode for ion channels. It has been reported that the activity of ion channels in cardiomyocytes is sensitive to ATP level. This...
background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...
Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. The phenotype of HED is associated with mutation in EDA, EDAR, EDARADD and NEMO genes, all of them disruptingNF-κB signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. ...
Aicardi-Goutieres syndrome (AGS) is an inflammatory genetic disease inherited in an autosomal recessive manner. Common features of this disease are encephalopathy, splenomegaly and hepatomegaly, muscle stiffness, irritability, unstoppable crying, seizures and dilation in growth. According to previous studies, primary genes responsible for this Syndromes are as followed: TREX 1, RNASEH2A, RNASEH...
hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...
The clustering problem under the criterion of minimum sum of squares is a non-convex and non-linear program, which possesses many locally optimal values, resulting that its solution often being stuck at locally optimal values and therefore cannot converge to global optima solution. In this paper, we introduce several new variation operators for the proposed hybrid genetic algorithm for the cl...
Chrysanthemum is one of the ornamental plants that cultivated widely in worldwide. This flower is one of the most important cut and pot flowers in the world due to its high diversity of colors and shapes. The creation of mutation is an important method for the production of new cultivars, and many cultivars have been produced through spontaneous and induced mutations. In this study, explants of...
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