نتایج جستجو برای: PC mutation
تعداد نتایج: 331855 فیلتر نتایج به سال:
Since their initial discovery (1) immunoglobulin idiotypes have proven to be useful in studies examining antibody diversity, inheritance of variable region expression, regulation of specific antibody responses, and the possible use of antibody heavy chain variable (Vrz) 1 regions in T cell antigen receptors. In the present report, we present evidence that there is a close relationship between t...
Abstract Metabolic profiles of diffuse astrocytoma and recurrent tumor tissues were compared in a patient with who showed recurrence progressed to glioblastoma (GBM). The presented infiltrating was operated April 2018. pathology report that the diffusely Ki-67 5% (WHO Grade II). In addition, molecular testing results indicated IDH1wt TERTp mutation an indeterminate MGMT promoter status. Given b...
Mutations in the gene encoding the voltage-gated sodium channel of skeletal muscle (SkM1) have been identified in a group of autosomal dominant diseases, characterized by abnormalities of the sarcolemmal excitability, that include paramyotonia congenita (PC) and hyperkalemic periodic paralysis (HYPP). We previously reported that PC mutations cause in common a slowing of inactivation in the huma...
Abstract STUDY QUESTION Is there an association between hereditary thrombophilia in pregnant women and risk of recurrent pregnancy loss (RPL)? SUMMARY ANSWER Pregnant with have increased RPL, especially for the G1691A mutation factor V Leiden (FVL) gene, G20210A prothrombin gene (PGM), deficiency protein S (PS). WHAT IS KNOWN ALREADY Prior studies suggested that a higher however, results are in...
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