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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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書誌詳細
主要な著者: Behbehani, Raed, Melhem, Motasem, Alghanim, Ghazi, Behbehani, Kazem, Alsmadi, Osama
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 2014
主題:
オンライン・アクセス: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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