نتایج جستجو برای: i mutation
تعداد نتایج: 1302420 فیلتر نتایج به سال:
Retinal neovascularization in the setting of <i>CALR</i>-mutation positive essential thrombocythemia
Patients with Calreticulin ( CALR) mutation positive essential thrombocythemia are often thought of as having a “low-risk” thrombotic complications. This report examines case patient CALR-mutation presenting peripheral retinal ischemia and subsequent neovascularization. had 2-year documented history maximum platelet count over 800,000 cells/µL. Fluorescein angiogram showed significant leakage i...
Abstract Background The sequences of several important mitochondrion-encoded genes involved in respiration higher plants are interrupted by introns. Many nuclear-encoded factors splicing these introns, but the mechanisms underlying this remain unknown. Results We isolated and characterized a rice mutant named floury shrunken endosperm 5 ( fse5 ). In addition to having endosperm, seeds either fa...
We describe a 54-year-old man with dominant adult-onset dopa-responsive dystonia (DRD) with parkinsonism caused by an Arg184His mutation in guanosine 5'-triphosphate cyclohydrolase I (GCH-I). This is the first mutation in the GCH-I gene that has been proven to be responsible for both recessive and dominant phenotypes.
Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly manifesting overgrowth and broad spectrum of intellectual disability. It caused by pathogenic variants in the DNA methyltransferase 3 alpha (<i>DNMT3A</i>) gene, mainly <i>de novo</i> inheritance. Overgrowth, mild-to-severe disability, other clinical features TBRS may affect quality life patients ...
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
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