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Shahin Asadi

Gene Space : Genetic Mutations in Spinal Muscular Atrophy

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SPS Okt 2016, 2016

Anbieter AHA-BUCH GmbH, (Einbeck, Deutschland)
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Taschenbuch. Neuware - Today, cerebral palsy and muscular diseases to humans is an irreversible disorder. These diseases are often genetic and are often associated with genetic mutations. In this book we assess our own research for genes involved in diseases, cerebral palsy and muscular, focused. We hope that molecular genetics and gene therapy techniques in the future, especially to cerebral palsy and muscular routes suitable treatment for genetic disorders, explore.Muscle atrophy syndrome - Spinal (SMA) is one of the common diseases of muscle - nerve, with progressive paralysis is due to the alpha motor neuron in the spinal cord becomes waste. SMN1 and SMN2 gene expression in SMA by only a single nucleotide in exon 7 are different. Homozygous deletion of exon 7 in the SMN1 gene is the most common mutation observed. Compound heterozygosity small proportion of patients with a point mutation in one allele and the other allele are removed. In other cases the disease does not appear to be the result of a change in SMN1. In spinal atrophy - muscle, SMN2 unable to compensate for the shortage caused by the deletion of exon 7. 56 pp. Englisch. Neu. Artikel-Nr.: 9783659842696.

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Taschenbuch. Neuware - Today, hearing impairment caused by genetic or environmental factors may occur. Among the factors that could cause the hearing loss, genetic mutations that occur in maternal mitochondria. One of the candidate genes for deafness syndrome, a genetic mutation that GJB2 mutation creates 35del G's. In this book, we analyzed the gene. Our findings in this study were similar to other researchers in different countries of the world.Research conducted in different parts of the country reflects the importance of the 35delG mutation in the GJB2 gene. But the mutations listed in the incidence of non-syndromic deafness with autosomal recessive inheritance pattern (ARNSHL) in the city of Tabriz is unknown. In this study, the mutation frequency in the population are non-syndromic hearing was conducted in Tabriz. Non-syndromic recessive deafness Tabrizi 79 non-related patients were studied. Screening of GJB2 35delG mutation that causes some cases of this type of hearing loss is considered, using molecular techniques ARMS - PCR (Allel Refraction Mutation System - Polymerase Chain Reaction) and the nucleotide sequences were determined. 172 pp. Englisch. Neu. Artikel-Nr.: 9783659843495.

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Taschenbuch. Neuware - Today, diabetes as a disease is endemic to all people in the world. Diabetes is a deadly disease that affects all the vital organs of the human body. Diabetes usually genetically inherited talent is recessive in cells to induce diabetes. However, indiscriminate use of sugars and carbohydrates also increase the susceptibility of cells to induce diabetes. The book of genetic mutations induced diabetes analyzed and the analysis we have put ICT. In this research in a variety of polymorphisms in genetic susceptibility to type 2 diabetes have studied.Changes in gene activity and content PGC-1a, probably due to its polymorphisms far-reaching effects on metabolic processes in patients with type 2 diabetes. This study aimed to determine the PGC-1a gene polymorphisms and T2D Thr394Thr meta-analysis was performed. 164 pp. Englisch. Neu. Artikel-Nr.: 9783659842900.

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Taschenbuch. Neuware - Today, nervous disorders of the nervous system caused by gene changes. Many neurological diseases are of genetic origin. Epilepsy is also the origin of genetic mutations caused by genetic mutations, especially EPM2A is created. In this book we focus on genetic mutations induce a neurological disorder epilepsy. And we analyzed the gene EPM2A. This gene as a major factor in neurological disorder epilepsy plays a role. It also epigenetic factors involved in inducing neurological disorder epilepsy.temporary and transient is caused by cerebral diagnosis of recurrent seizure etiology: idiopathic, stroke, abnormal blood vessels, causes congenital, brain trauma, brain tumors and degenerative diseases of the brain in patients with epilepsy treatment methods new treatment for epilepsy, in addition to drug treatments follow a correct diet and proper nutrition in patients with epilepsy and attention to proper eating habits and adopt a healthier approach to life can help effectively used to control seizures in patients with epilepsy is. Only one type of diet known as the ketogenic diet as a diet rich in fats and non-starchy special and sugar. 636 pp. Englisch. Neu. Artikel-Nr.: 9783659843037.

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