نتایج جستجو برای: unknown mutations
تعداد نتایج: 374830 فیلتر نتایج به سال:
Background and Objective: B-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of b-globin gene expression. It has been estimated that more than 2,000,000 carriers as well as 20,000 patients affected with b-thalassemia are living in Iran, a country with more than 70 million population and great ethnic diversity. In this study we aimed to find out the b-...
NF1 encodes for neurofibromin 1, a RAS GTPase-activating protein (GAP) that regulates nucleotide cycling and when inactivated can promote aberrant signaling carcinogenesis. Deleterious mutations have been previously reported in non-small cell lung cancer (NSCLC), particularly current/former smokers, but the genomic landscape of this molecular subgroup remains incompletely characterized. Further...
Genetic and epigenetic changes in the von Hippel-Lindau (VHL) tumour suppressor gene are common in sporadic conventional (clear cell) renal cell carcinoma (ccRCC). The effects on VHL expression are unknown but increased understanding may be relevant clinically, either in terms of prognosis or in therapy selection. We have examined the expression of VHL mutant RNA in 84 ccRCC tumours previously ...
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