A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population
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چکیده
منابع مشابه
A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population
BACKGROUND Congenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are caused by defects in a limited number of genes. A convenient and reliable method for detecting common deafness-related gene mutations in the Chinese population is required. METHODS We developed a PCR...
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15 صفحه اولDevelopment of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy.
We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the pr...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2017
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0177196