نتایج جستجو برای: 32 mutation
تعداد نتایج: 434226 فیلتر نتایج به سال:
Defects in Tricarboxylic Acid Cycle Enzymes Fumarate Hydratase and Succinate Dehydrogenase in Cancer
............................................................................................................... 9 1 REVIEW OF THE LITERATURE ................................................................... 11 1.1 CANCER IS A GENETIC DISEASE...................................................................... 11 1.1.1 Oncogenes ...................................................................
BACKGROUND AND PURPOSE The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A). METHODS We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and clas...
Familial isolated hyperparathyroidism (FIHP) can result occasionally from the incomplete expression of a syndromic form of familial hyperparathyroidism (HPT), specifically multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric hypercalcemia, or the hyperparathyroidism-jaw tumor syndrome (HPT-JT). The cause of FIHP has not been identified in the majority of families. We investigated ...
BACKGROUND Hearing loss (HL) is the most frequent neurosensory impairment. HL is highly heterogeneous defect. This disorder affects 1 out of 500 newborns. This study aimed to determine the role of DFNB2 locus and frequency of MYO7A gene mutations in a population from west of Iran. METHODS Thirty families investigated in Shahrekord University of Medical Sciences in 2014, genetic linkage analys...
ABSTRACT Background: Increasing numbers of mutations causing monogenic forms Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific profile Brazilian is essential for improving counseling selecting clinical trials. Objective: We conducted a systematic review to identi...
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