نتایج جستجو برای: dhplc
تعداد نتایج: 390 فیلتر نتایج به سال:
Nested multigene MSP/DHPLC method for analyzing promoter hypermethylation status in clinical samples
Marfan syndrome (MFS) is one of the major heritable disorders of connective tissue with a prevalence of between 1 in 5-10 000. 2 It is characterised by features in the cardiovascular, ocular, and musculoskeletal systems and the Ghent criteria form a useful framework for its diagnosis. Mutations in FBN1 encoding the extracellular matrix protein fibrillin-1 classically cause MFS. Fibrillin-1, com...
The recent achievement of the human genome project has led to the identification of many disease genes in common hereditary conditions, in which patients and their relatives would benefit from genetic diagnosis. This has increased the need for simple, sensitive, and cost effective methods of mutation analysis. However, the “gold standard” of mutation analysis, direct sequencing, is still an exp...
BACKGROUND Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder that can be an autosomal-dominant, autosomal-recessive, or X-linked disease. The most common autosomal-dominant form of the disease derives from mutations in the SPAST gene. METHODS The aim of this study was to analyze 49 patients diagnosed with HSP from the Estonian population for sequence v...
DGGE and SSCA. Hum Mutat 1996;7:114–22. 6. Jorge SB, Melo MB, Costa FF, Sonati MF. Screening for mutations in human -globin genes by nonradioactive single-strand conformation polymorphism. Braz J Med Biol Res 2003;36:1471–4. 7. Foglietta E, Deidda G, Graziani B, Modiano G, Bianco I. Detection of -globin gene disorders by a simple PCR methodology [Erratum published in: Haematologica 1996;81:XVI]...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید