Disease penetrance in LHON ‐ unravelling the puzzle
نویسندگان
چکیده
منابع مشابه
Unravelling the ORFan Puzzle
ORFans are open reading frames (ORFs) with no detectable sequence similarity to any other sequence in the databases. Each newly sequenced genome contains a significant number of ORFans. Therefore, ORFans entail interesting evolutionary puzzles. However, little can be learned about them using bioinformatics tools, and their study seems to have been underemphasized. Here we present some of the qu...
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We read with interest the article by Khan et al. about the influence of haplogroups on the penetrance and phenotype of the m.11778G>A variant in 146 manifesting and 397 unaffected carriers of the mutation (64 index cases). No association between the mutation and a specific haplogroup was found. We have the following comments and concerns. We do not agree with the statement in the introduction t...
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متن کاملAuthor Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate.
We appreciate the effort shown by the authors and their comments on our article ‘‘Leber’s Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.’’ Leber’s hereditary optic neuropathy (LHON) is the most common, well-diagnosed, and maternally inherited mitochondrial disease. In this case, we would emphasize the statement that LHON is one of ...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2019
ISSN: 1755-375X,1755-3768
DOI: 10.1111/j.1755-3768.2019.8071