Literature DB >> 33493461

Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation.

Han Peng Zhou1, Hitoshi Ishikawa2, Ryoma Yasumoto3, Keizo Sakurai3, Hiromasa Sawamura4.   

Abstract

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Year:  2021        PMID： 33493461     DOI： 10.1016/j.jcjo.2020.12.022

Source DB:  PubMed          Journal:  Can J Ophthalmol        ISSN： 0008-4182            Impact factor:   1.882


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  3 in total

1.  Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report.

Authors:  Qingdan Xu; Ping Sun; Chaoyi Feng; Qian Chen; Xinghuai Sun; Yuhong Chen; Guohong Tian
Journal:  Front Med (Lausanne)       Date:  2022-07-04

2.  Human clinical mutations in mitochondrially encoded subunits of Complex I can be successfully modeled in E. coli.

Authors:  Fang Zhang; Quynh-Chi L Dang; Steven B Vik
Journal:  Mitochondrion       Date:  2022-03-17       Impact factor: 4.534

3.  Incidence of Leber hereditary optic neuropathy in 2019 in Japan: a second nationwide questionnaire survey.

Authors:  Fumio Takano; Kaori Ueda; Daniel A Godefrooij; Akiko Yamagami; Hiroto Ishikawa; Hideki Chuman; Hitoshi Ishikawa; Yasuhiro Ikeda; Taiji Sakamoto; Makoto Nakamura
Journal:  Orphanet J Rare Dis       Date:  2022-08-20       Impact factor: 4.303
  3 in total

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