Zobrazeno 1 - 3
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pro vyhledávání: '"Elona Jankauskaitė"'
Autor:
Parvana Hajieva, Magdalena Korwin, Elona Jankauskaitė, Katarzyna Tońska, Anna M. Ambroziak, Monika Ołdak, Ewa Bartnik, Agata Kodroń
Publikováno v:
Journal of Applied Genetics
Leber’s hereditary optic neuropathy (LHON) is one of the most common mitochondrial diseases caused by point mutations in mitochondrial DNA (mtDNA). The majority of diagnosed LHON cases are caused by a point mutation at position 11,778 in the mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a2cdb613b2e2b0ade9346ec07b18c2
https://doi.org/10.1007/s13353-020-00550-y
https://doi.org/10.1007/s13353-020-00550-y
Publikováno v:
Mitochondrion. 32:19-26
Leber's hereditary optic neuropathy (LHON) was the first human disease found to be associated with a mitochondrial DNA (mtDNA) point mutation. The most common LHON mutations are 11778G>A, 3460G>A or 14484T>C. The most common clinical features of LHON
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6545c4c757c03daf0007edcb9efff94c
https://doi.org/10.1016/j.mito.2016.11.006
https://doi.org/10.1016/j.mito.2016.11.006
Publikováno v:
Postepy biochemii. 62(2)
Perturbations of mitochondrial function, which may be caused by mutations in both nuclear and mitochondrial DNA, cause many human diseases. We describe the most frequent mitochondrial diseases, especially those caused by mutations in the nuclear geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::28beea0ef334f27a8e67f31daf5c47a2
https://pubmed.ncbi.nlm.nih.gov/28132462
https://pubmed.ncbi.nlm.nih.gov/28132462