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Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 584 - 596
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. Nuclear modifier genes are proposed to modify the phenotypic expression... 
OXIDATIVE STRESS | COMPLEX-I | CAUSES MYOPATHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | HIGH PENETRANCE | GENETICS & HEREDITY | HAN CHINESE FAMILIES | LACTIC-ACIDOSIS | ND4 G11778A MUTATION | SIDEROBLASTIC ANEMIA | CELL-LINES | MTDNA MUTATIONS | Mitochondria - enzymology | Neurons - pathology | Humans | Molecular Sequence Data | NADH Dehydrogenase - genetics | Optic Atrophy, Hereditary, Leber - genetics | Mitochondrial Proteins - genetics | Electron Transport Complex I - metabolism | Case-Control Studies | Electron Transport Complex IV - metabolism | Exome | Optic Atrophy, Hereditary, Leber - pathology | DNA, Mitochondrial - genetics | Mitochondria - genetics | Optic Atrophy, Hereditary, Leber - enzymology | Cyclooxygenase 2 - genetics | Electron Transport Complex I - genetics | Mitochondrial Proteins - metabolism | Base Sequence | Tyrosine-tRNA Ligase - metabolism | Cell Line | Tyrosine-tRNA Ligase - chemistry | Genetic Predisposition to Disease | DNA, Mitochondrial - metabolism | Gene Expression Regulation | Models, Molecular | Tyrosine-tRNA Ligase - genetics | Electron Transport Complex IV - genetics | Mitochondria - pathology | NADH Dehydrogenase - metabolism | Homozygote | Phenotype | Pedigree | Neurons - enzymology | Alleles | Cyclooxygenase 2 - metabolism | Mitochondrial Proteins - chemistry | Heterozygote | Mutation | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2008, Volume 83, Issue 6, pp. 760 - 768
Leber hereditary optic neuropathy (LHON) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three... 
CYTOCHROME-C-OXIDASE | SEQUENCE-ANALYSIS | PENETRANCE | NEURORETINOPATHY | DISEASE | GENETICS & HEREDITY | G11778A MUTATION | LHON | HAPLOTYPE | EAST | EPIDEMIOLOGY | Report
Journal Article
MITOCHONDRION, ISSN 1567-7249, 09/2018, Volume 42, pp. 84 - 91
Purpose: The purpose of this study was to investigate the pathophysiology underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial tRNA... 
PHENOTYPIC MANIFESTATION | DNA MUTATION | tRNA | Pathophysiology | PATHOGENIC MUTATIONS | HUMAN-CELLS | BIOCHEMICAL-EVIDENCE | Mitochondrial DNA | Metabolism | Leber's hereditary optic neuropathy (LHON) | CELL BIOLOGY | COMPLEX-I | HIGH PENETRANCE | GENETICS & HEREDITY | Chinese | Mutation | ND4 G11778A MUTATION | TRANSFER-RNA | MTDNA MUTATIONS
Journal Article
Clinical and Experimental Hypertension, ISSN 1064-1963, 08/2018, Volume 40, Issue 6, pp. 518 - 523
Here, we reported a Han Chinese essential hypertensive pedigree based on clinical hereditary and molecular data. To know the molecular basis on this family,... 
Hypertension | halopgroup | mitochondrial DNA | gene mutation | matrilineal | PHENOTYPIC MANIFESTATION | INHERITED HYPERTENSION | HYPERTROPHIC CARDIOMYOPATHY | A1555G MUTATION | DNA | PHARMACOLOGY & PHARMACY | PERIPHERAL VASCULAR DISEASE | LACTIC-ACIDOSIS | HEREDITARY OPTIC NEUROPATHY | ND4 G11778A MUTATION | TRANSFER-RNA | HAN CHINESE | Index Medicus
Journal Article
by Zhao, FX and Guan, MQ and Zhou, XT and Yuan, MX and Liang, M and Liu, Q and Liu, Y and Zhang, YM and Yang, L and Tong, Y and Wei, QP and Sun, YH and Qu, J and Guan, MX
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ISSN 0006-291X, 11/2009, Volume 389, Issue 3, pp. 466 - 472
We repel there the clinical, genetic, and molecular characterization of three Chinese families with Leber's hereditary optic neuropathy (LHON). There were... 
Haplogroup | PHENOTYPIC MANIFESTATION | ND6 | BIOCHEMISTRY & MOLECULAR BIOLOGY | G11778A MUTATION | Penetrance | Mitochondrial DNA | 3 CHINESE FAMILIES | IDENTIFICATION | COMPLETE NUCLEOTIDE-SEQUENCE | GENOME | Leber's hereditary optic neuropathy | BIOPHYSICS | GENE | DNA | LHON | Chinese | Mutation | Visual loss | EXPRESSION | Maternally
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 2009, Volume 386, Issue 2, pp. 392 - 395
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 12/2010, Volume 403, Issue 2, pp. 237 - 241
► mtDNA fragments encompassing the m.3635 region in 1398 Chinese probands with LHON were analyzed by cycle sequencing. ► m.3635G>A mutation was detected in... 
m.3635G>A | LHON | Chinese | Mutation | mtDNA | M.3635G>A | MtDNA | PENETRANCE | BIOPHYSICS | CLINICAL EXPRESSION | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | HAPLOGROUP DISTRIBUTION | G11778A MUTATION | m.3635G > A | Asian Continental Ancestry Group | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Pedigree | Humans | Female | Male | Optic Atrophy, Hereditary, Leber - genetics | Index Medicus
Journal Article
Journal Article