نتایج جستجو برای: predominant mutations
تعداد نتایج: 215817 فیلتر نتایج به سال:
We formulate the effective field theory of a D-particle on orbifolds of T 4 by a cyclic group as a gauge theory in a V -bundle over the dual orbifold. We argue that this theory admits Fayet-Iliopoulos terms analogous to those present in the case of noncompact orbifolds. In the n = 2 case, we present some evidence that turning on such terms resolves the orbifold singularities and may lead to a K...
Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...
Glucose-6-Phosphate Dehydrogenase (G6PD) is a cytosolic enzyme which its main function is to produce NADPH in the red blood cells by controlling the step from Glucose-6-Phosphate to 6-Phospho gluconate in the pentose phosphate pathway. G6PD deficiency is the most common X-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...
X線 回折 法 に よる結 晶構 造 解 析 は,大 き さ0 .1 ~1mmの 単 結 晶 が あ れ ば ,原 子 の三 次 元 配 列 を 決 定 す る こ とが で き,原 子 間 距 離,結 合 角,配 位 数 な どの化 学 結 合 に 関 す る知 識 が 直 接 得 られ る非 常 に 優 れ た 方法 で あ る。 結 晶構 造 を決 定 す る過 程 は,次 の二 つ の段 階 に分 け られ る。 第1は ,単 結 晶 を 選 んで ワイ セ ンベ ル グ写 真 法 な どに よ って 晶 系,格 子 定 数,空 間 群 を 決 め,比 重 測 定 に よ って 単 位 格 子 内 の 化 学 単 位 数 を 決 定 す る過程 で あ る。 第2は,単 結 晶 のX線 回 折 強 度 か ら各原 子 の座 標 を 決 定 す る過 程 で あ る。 こ の過...
A case of late-infantile Krabbe disease in a patient who presented with developmental regression and spastic quadriplegia in late infancy is reported. Brain magnetic resonance imaging (MRI) at 11 months of age showed predominant corticospinal tract involvement, which usually appears in adult Krabbe disease. Galactocerebrosidase activity in lymphocytes and skin fibroblasts was very low. Genetic ...
Multiple endocrine neoplasia type 2 (MEN2) syndromes are inherited in an autosomal dominant fashion with high penetrance. There are three subtypes, namely, MEN2A (multiple endocrine neoplasia type 2A), MEN2B (multiple endocrine neoplasia type 2B), and familial medullary thyroid carcinoma. The variations in the RET gene play an important role in the MEN2 syndromes. In this work, we have develope...
how to cite this article: tonekaboni sh, ebrahimi a, bakhshandeh bali mk, houshmand m, moghaddasi m, taghdiri mm, nasehi mm. sodium channel gene mutations in children with gefs + and dravet syndrome: a cross sectional study. iran j child neurol. 2013 winter; 7 (1):25-29. objective dravet syndrome or severe myoclonic epilepsy of infancy (smei) is a baleful epileptic encephalopathy that begins ...
Methods Files of patients who had been seen in our department (during routine follow-up visits) between January 2013 and January 2014 were retrospectively evaluated. Six predominant mutations (p.M694V, p.M680I, p.M694I, p.V726A, p.K695R, p.E148Q) in the MEFV gene were studied in our center. Patients were divided into two groups: group I included patients with heterozygous mutations and group II...
We screened 100 patients with inherited and sporadic lower motor neuron degeneration and identified three novel missense mutations in the glycyl-tRNA synthetase (GARS) gene. One mutation was in the anticodon binding domain and associated with onset in early childhood and predominant involvement of the lower limbs, thus extending the phenotype associated with GARS mutations.
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