𝔖 Bobbio Scriptorium
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Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming

✍ Scribed by Søren Nørby; Patrick Lestienne; Isabelle Nelson; Thomas Rosenberg


Book ID
115764434
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
677 KB
Volume
175
Category
Article
ISSN
0006-291X

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Screening for the two most frequent muta
✍ Søren Nørby 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 470 KB

This report describes a rapid and inexpensive assay, which allows detection, in whole blood and by PCR alone, of the two most frequent mitochondrial DNA mutations causing Leber's hereditary optic neuropathy. The assay is based on allele-specific amplification, using primers with the mutation-specifi