کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5681005 1408801 2017 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Nuevos métodos diagnósticos en los trastornos plaquetarios hereditarios
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پزشکی و دندانپزشکی (عمومی)
پیش نمایش صفحه اول مقاله
Nuevos métodos diagnósticos en los trastornos plaquetarios hereditarios
چکیده انگلیسی
Inherited platelet disorders diagnosis is based on the clinical history and bleeding assessment tools. The laboratory functional assays as well as the molecular test to identify the pathogenic genetic variant are essential to confirm the accurate diagnosis of these disorders. Nowadays, the main challenges to developing a new diagnostic system are involved in reducing the samples' volume, and faster and more helpful analysis. Moreover, there are no widely available and standardised global tests. High throughput genetic testing such as next-generation sequencing has revolutionised DNA sequencing technologies as it allows the simultaneous and faster investigation of multiple genes at a manageable cost. This technology has improved the molecular characterisation of inherited platelet disorders and has been implemented in the research studies and the clinical routine practice.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Medicina Clínica - Volume 148, Issue 2, 20 January 2017, Pages 71-77
نویسندگان
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