Leber’s hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients

Leber’s hereditary optic neuropathy (LHON) is a rare maternally inherited disease caused by mutations in mitochondrial DNA (mtDNA) genes encoding subunits of complex I in the mitochondrial respiratory chain. The most common mutations causing LHON are G11778A, G3460A and T14484C, but there are also s...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Sylvia Cherninkova, Boryana Zaharova, Kunka Kamenarova, Kalina Mihova, Slavena Atemin, Tihomir Todorov, Vasil Haykin, Alexander Oscar, Ivailo Tournev, Radka Kaneva, Albena Todorova
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Taylor & Francis Group 2023-03-01
Цуврал:	Biotechnology & Biotechnological Equipment
Нөхцлүүд:	Leber’s hereditary optic neuropathy neuroophthalmologic examination genetic examination rare mutation mtDNA
Онлайн хандалт:	https://www.tandfonline.com/doi/10.1080/13102818.2023.2255073
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!