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Sequence analysis of Hungarian LHON patients not carrying the common primary mutations
Author(s) -
Horvath J.,
Horvath R.,
Karcagi V.,
Komoly S.,
Johns D. R.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1016518811940
Subject(s) - genetics , point mutation , mitochondrial dna , human genetics , sequence (biology) , biology , mutation , sequence analysis , dna sequencing , gene
We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.