Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
暂无分享,去创建一个
P. Bénit | A. Munnich | L. Hertz-Pannier | P. Rustin | A. Rötig | E. Girardin | P. de Lonlay | S. Lebon | P. Lonlay | D. Chrétien | E. Girardin | I. Giurgea | M. Chol | I. Kern | C. Mugnier | Arnold Munnich | Marie Chol
[1] P. Bénit,et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency , 2003, Journal of medical genetics.
[2] P. Bénit,et al. Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts. , 2003, Biochemical and biophysical research communications.
[3] D. Turnbull,et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. , 2002, American journal of human genetics.
[4] Robert W Taylor,et al. Leigh disease associated with a novel mitochondrial DNA ND5 mutation , 2002, European Journal of Human Genetics.
[5] Robert W. Taylor,et al. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene , 2001, Annals of neurology.
[6] V. Tiranti,et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients , 2001, Annals of neurology.
[7] D. Turnbull,et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA , 1999, Nature Genetics.
[8] A. Munnich,et al. Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations. , 1998, Biochemical and biophysical research communications.
[9] T. Bourgeron,et al. Biochemical and molecular investigations in respiratory chain deficiencies. , 1994, Clinica chimica acta; international journal of clinical chemistry.
[10] F. Sanger,et al. Sequence and organization of the human mitochondrial genome , 1981, Nature.