Mutation screening by denaturing gradient gel electrophoresis in North American patients with acute intermittent porphyria.
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چکیده
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منابع مشابه
Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations.
Single-strand conformational polymorphism and denaturing gel electrophoresis were used to screen for mutations in the protoporphyrinogen oxidase gene (PPOX) of three patients with clinically and biochemically proven variegate porphyria in order to select genomic regions for specific DNA sequence analysis. Two previously undescribed mutations were identified: PPOX1423-1426-delATCT and PPOX2272in...
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ورودعنوان ژورنال:
- Clinical chemistry
دوره 44 8 Pt 1 شماره
صفحات -
تاریخ انتشار 1998