نتایج جستجو برای: i mutation
تعداد نتایج: 1302420 فیلتر نتایج به سال:
congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...
context cystic fibrosis (cf) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the caucasian population. as the median survival has increased related to early multidisciplinary intervention, other manifestations of cf have emergedespecially for the broad spectrum of hepatobiliary involvement. the present study reviews the existing literature on liv...
background nucleus(t)ide analogs (nas), containing lamivudine (lmv), adefovir dipivoxil (adv), endeavor (etv), telbivudine (ldt), and tenofovir (tdf) are widely used for the treatment of chronic hepatitis b (chb), but long term anti-hepatitis b virus (hbv) therapy with nas may give rise to the emergence of drug-resistant viral mutants. objectives this study aimed to find and identify some new r...
Sudoku puzzles are an excellent testbed for evolutionary algorithms. The puzzles are accessible enough to be enjoyed by people. However the more complex puzzles require thousands of iterations before a solution is found by an evolutionary algorithm. If we were attempting to compare evolutionary algorithms we could count their iterations to solution as a indicator of relative efficiency. However...
background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patien...
in order to increase tylosin production by streptomyces fradiae, two mutagens, i. e. uv and ems (ethylmethanesulfonate) were used. death curves were plotted for these mutagens. optimum condition for obtaining mutants by uv radiation was determined by using a uv source lamp at a distance of 20 cm for 40-60 seconds. when ems was used at 4% (w/v) concentration, the best mutants were isolated after...
Atypical hemolytic-uremic syndrome (aHUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy (TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with stero...
1 Departments of Pediatrics, 2 Department of Endocrinology and Metabolism, 3Center for Human and Clinical Genetics, 8Department of Cardiology, 9 Department of Audiology Leiden University Medical Center, Leiden, The Netherlands 4 Department of Metabolic and Endocrine diseases, University Medical Center Utrecht, Utrecht, The Netherlands 5 Medical Research Laboratories and Medical Department, Aarh...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید