نتایج جستجو برای: rare mutations
تعداد نتایج: 402573 فیلتر نتایج به سال:
The vast majority of mutations are deleterious, and are eliminated by purifying selection. Yet in finite asexual populations, purifying selection cannot completely prevent the accumulation of deleterious mutations due to Muller’s ratchet: once lost by stochastic drift, the most-fit class of genotypes is lost forever. If deleterious mutations are weakly selected, Muller’s ratchet turns into a mu...
how to cite this article: tonekaboni sh, ebrahimi a, bakhshandeh bali mk, houshmand m, moghaddasi m, taghdiri mm, nasehi mm. sodium channel gene mutations in children with gefs + and dravet syndrome: a cross sectional study. iran j child neurol. 2013 winter; 7 (1):25-29. objective dravet syndrome or severe myoclonic epilepsy of infancy (smei) is a baleful epileptic encephalopathy that begins ...
Background: Adult T cell leukemia lymphoma (ATLL) is a rare disease, significantly linked to the infection by the human T-cell lymphotropic virus 1(HTLV-1). ATLL is typically preceded by decades of clinical latency during which infected cells accumulate selectable traits leading to a malignant transformation. Amongst all the HTLV-1 infected carriers only about 3-5% will develop ATLL. Despite th...
conclusions congenital hyperinsulinism can have different inheritance pattern. autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. it appears that mutations in abcc8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. pcr followed by sanger sequencing proved to be an efficient method for mutation de...
Palmoplantar keratoderma of Sybert (PPK of Sybert) or Sybert’s keratoderma was first documented by Virginia Sybert in 1988. Due to the high degree of similarity, it was previously considered to be Greither’s keratoderma, an established entity at that time. Currently, clinical and ultrastructural studies distinguish between the two disorders. Sybert’s keratoderma is an extremely rare type of ker...
In metastatic stage, therapeutic approach for malignant melanoma is particularly based on performance status, sites, and BRAF V600 status (BRAF V600E/V600K or V600R (class I mutations). most cases, mutations NRAS are mutually exclusive to each other. However, some rare class III preferentially associated with a mutation, leading the MAP Kinase pathway activation subsequent cell proliferation. M...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید