Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.
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Huanming Yang | J. Qu | F. Lu | Ronghua Li | Yaping Qian | J. Mo | Xiangtian Zhou | Yongwu Hu | M. Guan | Y. Tong
[1] J. Qu,et al. Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation. , 2005, Biochemical and biophysical research communications.
[2] Shamkant B. Navathe,et al. MITOMAP: a human mitochondrial genome database—2004 update , 2004, Nucleic Acids Res..
[3] Hui Zhao,et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. , 2004, American journal of human genetics.
[4] D. Mackey,et al. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. , 2003, American journal of human genetics.
[5] D. Turnbull,et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. , 2003, American journal of human genetics.
[6] M. Woischnik,et al. Pattern of organization of human mitochondrial pseudogenes in the nuclear genome. , 2002, Genome research.
[7] D. Turnbull,et al. Leber hereditary optic neuropathy , 2002, Journal of medical genetics.
[8] T. Kivisild,et al. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. , 2002, American journal of human genetics.
[9] E. Starikovskaya,et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J , 2002, Human Genetics.
[10] S. Servidei. Mitochondrial encephalomyopathies: gene mutation , 2001, Neuromuscular Disorders.
[11] J. Enríquez,et al. The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression , 1998, Molecular and Cellular Biology.
[12] N. Shimizu,et al. Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. , 1998, Current eye research.
[13] M. Rieder,et al. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. , 1998, Nucleic acids research.
[14] N. Howell. Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve , 1997, Vision Research.
[15] M. Zeviani,et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. , 1997, American journal of human genetics.
[16] D. Mackey,et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. , 1996, American journal of human genetics.
[17] A. Harding,et al. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. , 1995, American journal of human genetics.
[18] N. Newman,et al. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. , 1991, American journal of ophthalmology.
[19] N. Howell,et al. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. , 1991, American journal of human genetics.
[20] D. Johns,et al. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. , 1991, Biochemical and biophysical research communications.
[21] I. Nonaka,et al. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies , 1990, Nature.
[22] C. Saccone,et al. The complete nucleotide sequence of theRattus norvegicus mitochondrial genome: Cryptic signals revealed by comparative analysis between vertebrates , 1989, Journal of Molecular Evolution.
[23] D. Wallace,et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.
[24] B. Roe,et al. The complete nucleotide sequence of the Xenopus laevis mitochondrial genome. , 1985, The Journal of biological chemistry.
[25] D. A. Clayton,et al. Sequence and gene organization of mouse mitochondrial DNA , 1981, Cell.
[26] F. Sanger,et al. Sequence and organization of the human mitochondrial genome , 1981, Nature.
[27] E. Worthington,et al. Perch in British Lakes: A New Fishing Industry , 1941, Nature.
[28] N. Howell. LHON and other optic nerve atrophies: the mitochondrial connection. , 2003, Developments in ophthalmology.
[29] A. Torroni,et al. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations , 1995, Human mutation.