نتایج جستجو برای: PC mutation
تعداد نتایج: 331855 فیلتر نتایج به سال:
It was the aim of the present study to investigate factor II levels in liver cirrhosis (LC) patients with portal vein thrombosis (PVT) carrying the heterozygous G20210A prothrombin (PT) mutation. Plasma concentrations of factor II, VII, X, V, protein C (PC) total protein S (tPS) antithrombin (AT) and D-dimers (DD) were measured in 13 LC patients with PVT heterozygous for PT G20210A, in 13 LC pa...
The 2009 Annual Meeting of the International Pachyonychia Congenita Consortium (IPCC)* centered on the need to develop patient-friendly technologies to effectively and efficiently deliver nucleic acids to skin. The IPCC is a group of physicians and scientists who have agreed to work together to develop therapeutics for the rare skin disorder pachyonychia congenita (PC) (a list of IPCC members c...
The purpose of this study was to determine the G>C mutation on exon 9 (G21234C) Bovine Smoothened (SMO) gene polymorphism by using Cfr13I restriction enzyme with PCR-RFLP method in both Anatolian Black cattle and Water Buffaloes. According SMO gene, results showed that there were three genotypes such as GG, GC CC cattle, but only one genotype GG Allele frequencies estimated 0.35 0.65 for G C...
We introduce a new parameter to discuss the behavior of a genetic algorithm. This parameter is the mean number of exact copies of the best fit chromosomes from one generation to the next. We argue that the genetic algorithm should operate efficiently when this parameter is slightly larger than 1. We consider the case of the simple genetic algorithm with the roulette–wheel selection mechanism. W...
We report the isolation of two new opi3 mutants by EMS mutagenesis, and construction of an insertion allele in vitro using the cloned gene. We have demonstrated that the opi3 mutations cause a deficiency in the two terminal phospholipid N-methyltransferase (PLMT) activities required for the de novo synthesis of PC (phosphatidylcholine). The opi3 mutants, under certain growth conditions, produce...
Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia...
Background HIV infection is a known prothrombotic condition but factors involved are still controversial. A role for antiretrovirals, especially protease inhibitors, was advocated. Objectives The study aimed to analyze the levels of anticoagulant proteins in virally suppressed HIV-infected subjects treated with different anti-retroviral regimens. Materials and Methods Forty-four patients we...
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