نتایج جستجو برای: dependent probe amplification
تعداد نتایج: 823586 فیلتر نتایج به سال:
Transgenic mouse alleles continue to be used heavily in biomedical research (1). Transgenes insert into the genome at random sites, typically in a tandem array of 1 to 20 copies. Both Southern blot analysis and real-time PCR can be used for determining the zygosity of transgenes, but each have practical and technical limitations (2–4). Here we describe a robust, easily implemented method for de...
Hemoglobin (Hb) Lepore is composed of two normal α chains and two δβ fusion globins that arise from unequal crossover events between the δ- and β-globin genes. The Hb Lepore is widespread all over the world and in many ethnic groups. It includes some of the few clinically significant Hb variants that are associated with a β-thalassemia phenotype. Here, we describe the first occurrence of Hb Lep...
Neurofibromatosis type 1 (NF1) is a hereditary disorder caused by mutations in the NF1 gene. Detecting mutation in NF1 is hindered by the gene's large size, the lack of mutation hotspots, and the presence of pseudogenes.Our goal was to establish a sensitive, feasible, and comparatively economical protocol to detect NF1 mutations using blood samples.We developed a method to screen patients for m...
Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene. Those deletions were measured using multiplex ligation-dependent probe amplification. Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing. The deletion occurred in a patient diagnosed with Familial Adenoma...
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