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Journal Abstract Search

562 related items for PubMed ID: 29996615

  • 1. [A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation].
    Sun Y, Lei K, Xu ZL, Geng Y.
    Zhonghua Yan Ke Za Zhi; 2018 Jul 11; 54(7):526-534. PubMed ID: 29996615
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  • 2. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.
    Vandeputte J, Van Heetvelde M, Van Cauwenbergh C, Seneca S, De Baere E, Leroy BP, De Zaeytijd J.
    Ophthalmic Genet; 2021 Aug 11; 42(4):440-445. PubMed ID: 33858285
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  • 3. Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
    Jin X, Wang L, Gong Y, Chen B, Wang Y, Chen T, Wei S.
    Ophthalmic Genet; 2015 Aug 11; 36(4):291-8. PubMed ID: 24417559
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  • 4. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.
    Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.
    Mitochondrion; 2017 Sep 11; 36():15-20. PubMed ID: 27721048
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  • 5. Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber's hereditary optic neuropathy.
    Yum HR, Chae H, Shin SY, Kim Y, Kim M, Park SH.
    Invest Ophthalmol Vis Sci; 2014 Oct 23; 55(12):8095-101. PubMed ID: 25342614
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  • 16. Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.
    Yu D, Jia X, Zhang AM, Li S, Zou Y, Zhang Q, Yao YG.
    PLoS One; 2010 Oct 18; 5(10):e13426. PubMed ID: 20976138
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  • 17. Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study.
    Sadun AA, Salomao SR, Berezovsky A, Sadun F, Denegri AM, Quiros PA, Chicani F, Ventura D, Barboni P, Sherman J, Sutter E, Belfort R, Carelli V.
    Trans Am Ophthalmol Soc; 2006 Oct 18; 104():51-61. PubMed ID: 17471325
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