نتایج جستجو برای: ivsi 110 mutation
تعداد نتایج: 330963 فیلتر نتایج به سال:
conclusions: premature stop codon in the s gene was observed in all countries with evaluable hbv genome sequences. co-existence of detectable hepatitis b surface antigen (hbsag) and s gene premature stop codon was inconsistent with other studies. investigations on yield truncated hbsag are suggested to determine if they can affect elisa hbsag results. background: we have previously reported on ...
introduction: to study the prevalence of most common β-thalassemia mutations in lorestan province and use the results for epidemiologic study and prenatal diagnosis of β_thalassemia major. material and methods: 130 chromosomes from 65 unrelated homozygous β_thalassemia patients from lorestan province of iran (west-central) were investigated for β globin gene mutations by arms pcr. results: most...
Supercentenarians (110 years or older) are the world's oldest people. Seventy four are alive worldwide, with twenty two in the United States. We performed whole-genome sequencing on 17 supercentenarians to explore the genetic basis underlying extreme human longevity. We found no significant evidence of enrichment for a single rare protein-altering variant or for a gene harboring different rare ...
The human hypertrophic cardiomyopathy mutation R453C results in one of the more severe forms of the myopathy. Arg-453 is found in a conserved surface loop of the upper 50-kDa domain of the myosin motor domain and lies between the nucleotide binding pocket and the actin binding site. It connects to the cardiomyopathy loop via a long α-helix, helix O, and to Switch-2 via the fifth strand of the c...
The impact of WT1 mutations in acute myeloid leukemia (AML) is not completely settled. We aimed to determine the clinical implication of WT1 mutation in 470 de novo non-M3 AML patients and its stability during the clinical course. WT1 mutations were identified in 6.8% of total patients and 8.3% of younger patients with normal karyotype (CN-AML). The WT1 mutation was closely associated with youn...
The dihydropyridine Ca2+ antagonist drugs used in the therapy of cardiovacular disorders inhibit L-type Ca2+ channels by binding to a single high affinity site. Photoaffinity labeling and analysis of mutant Ca2+ channels implicate the IIIS6 and IVS6 segments in high affinity binding. The amino acid residues that are required for high affinity binding of dihydropyridine Ca2+ channel antagonists ...
The transient behavior of the I-dimensional 2-state 3-input cellular automaton rule 110, one of the simplest "edge of chaos" cellular automata, is investigated numerically. The simulations show that the average transient time Tave increases algebraically with system size N, Tave ~ N"', with a "" 1.08, and that the density of propagating objects (gliders) decays with time as ngl ~ r'Y with I "" ...
background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta globin genes. the aim of the present study was to identify the distribution and frequency of the most common β-thalassemia mutations among the population of isfahan province in central iran. methods: the data presented here were derived from a total of 114 β-thalassemia chro...
Marfan syndrome (MFS) is a rare inherited disorder of connective tissue characterized by various phenotypical and genetic manifestations. It involves mutation in FBN1 gene which encodes for microfibrillin glycoprotein fibrillin-1. Predominant involvement occurs eyes, skeleton cardiovascular system. Cardiovascular abnormalities such as aortic root dilatation mitral valve prolapse are the two mai...
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