scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.BBRC.2010.07.135 |
P953 | full work available at URL | https://api.elsevier.com/content/article/PII:S0006291X10014683?httpAccept=text/plain |
https://api.elsevier.com/content/article/PII:S0006291X10014683?httpAccept=text/xml | ||
P698 | PubMed publication ID | 20691156 |
P5875 | ResearchGate publication ID | 45535788 |
P50 | author | Min-Xin Guan | Q88150569 |
Fuxin Zhao | Q104471226 | ||
P2093 | author name string | Li Yang | |
Yan Wang | |||
Jian Zhou | |||
Jia Qu | |||
Wanshi Cai | |||
Juanjuan Zhang | |||
Xiangtian Zhou | |||
Jiying Wang | |||
Yi Tong | |||
Yan-Hong Sun | |||
Chengwu Li | |||
Meixia Yuan | |||
Yanzi Meng | |||
P2860 | cites work | Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder | Q24538459 |
Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome | Q24546324 | ||
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation | Q24679168 | ||
MITOMAP: a human mitochondrial genome database--2004 update | Q24795655 | ||
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA | Q27860870 | ||
Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy | Q28280974 | ||
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy | Q28292821 | ||
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy | Q28300484 | ||
Sequence and gene organization of mouse mitochondrial DNA | Q29618227 | ||
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy | Q33904852 | ||
Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation | Q34005399 | ||
Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation | Q34007681 | ||
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations | Q34386660 | ||
LHON and other optic nerve atrophies: the mitochondrial connection | Q35183311 | ||
Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family | Q36054550 | ||
Inherited mitochondrial optic neuropathies | Q37098009 | ||
Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation | Q37445425 | ||
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation | Q37455749 | ||
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations | Q40323552 | ||
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. | Q40739962 | ||
The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates | Q42640446 | ||
The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation | Q46907826 | ||
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation | Q48706853 | ||
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies | Q48836050 | ||
The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. | Q51809765 | ||
Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy | Q74484996 | ||
Mitochondrial encephalomyopathies: gene mutation | Q75218221 | ||
T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family | Q81161714 | ||
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation | Q81395960 | ||
Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families | Q81644165 | ||
Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy | Q81751777 | ||
Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation | Q82674539 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 647-653 | |
P577 | publication date | 2010-08-04 | |
P1433 | published in | Biochemical and Biophysical Research Communications | Q864228 |
P1476 | title | Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families | |
P478 | volume | 399 |
Q36422135 | A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest |
Q46515103 | Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. |
Q35924271 | Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation |
Q28552632 | Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity |
Q54228041 | Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C. |
Q84510175 | Mitochondrial disorders and the eye |
Q89286690 | Mitochondrial genome analysis in penile carcinoma |
Q40682178 | Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees |
Q53072695 | Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families. |
Q92654743 | Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family |
Q31081831 | Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy |
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