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ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a condition characterised by a rapid bilateral central vision loss due to death of the retinal ganglion cells, leading to visual impairment commonly occurring during young adulthood. The disease manifests itself more in male patients tha...

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Autori principali: Behbehani, Raed, Melhem, Motasem, Alghanim, Ghazi, Behbehani, Kazem, Alsmadi, Osama
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4033154/
https://ncbi.nlm.nih.gov/pubmed/24568867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2013-304140
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