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Volumn 36, Issue 7, 1999, Pages 505-510

Mitochondrial DNA analysis: Polymorphisms and pathogenicity

Author keywords

Alzheimer's disease; Leber's hereditary optic neuropathy; Mitochondrial DNA; Phylogenetic analysis

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0032965396     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.36.7.505     Document Type: Review
Times cited : (78)

References (65)
  • 1
    • 0029997198 scopus 로고    scopus 로고
    • Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II
    • Ivanov PL, Wadhams MJ, Roby RK, Holland MM, Weedon VW, Parsons TJ. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nat Genet 1996;12:417-20.
    • (1996) Nat Genet , vol.12 , pp. 417-420
    • Ivanov, P.L.1    Wadhams, M.J.2    Roby, R.K.3    Holland, M.M.4    Weedon, V.W.5    Parsons, T.J.6
  • 2
    • 0030898192 scopus 로고    scopus 로고
    • A high observed substitution rate in the human mitochondrial DNA control region
    • Parsons TJ, Muniec DS, Sullivan K, et al. A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet 1997;15:363-8.
    • (1997) Nat Genet , vol.15 , pp. 363-368
    • Parsons, T.J.1    Muniec, D.S.2    Sullivan, K.3
  • 3
    • 0028332916 scopus 로고
    • Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance
    • Torroni A, Wallace DC. Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr 1994;26:261 -71.
    • (1994) J Bioenerg Biomembr , vol.26 , pp. 261-271
    • Torroni, A.1    Wallace, D.C.2
  • 4
    • 0026870862 scopus 로고
    • American Indian prehistory as written in the mitochondrial DNA: A review
    • Wallace DC, Torroni A. American Indian prehistory as written in the mitochondrial DNA: a review. Hum Biol 1992;64:403-16.
    • (1992) Hum Biol , vol.64 , pp. 403-416
    • Wallace, D.C.1    Torroni, A.2
  • 5
    • 0029045299 scopus 로고
    • 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging
    • Wallace DC. 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 1995;57:201-23.
    • (1995) Am J Hum Genet , vol.57 , pp. 201-223
    • Wallace, D.C.1
  • 8
    • 0027384944 scopus 로고
    • A method for calibrating molecular clocks and its application to animal mitochondrial DNA
    • Lynch M, Jarrell PE. A method for calibrating molecular clocks and its application to animal mitochondrial DNA. Genetics 1993;135:1197-208.
    • (1993) Genetics , vol.135 , pp. 1197-1208
    • Lynch, M.1    Jarrell, P.E.2
  • 9
    • 0030788183 scopus 로고    scopus 로고
    • Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees
    • Wise CA, Sraml M, Rubinsztein DC, Easteal S. Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees. Mol Biol Evol 1997;14:707-16.
    • (1997) Mol Biol Evol , vol.14 , pp. 707-716
    • Wise, C.A.1    Sraml, M.2    Rubinsztein, D.C.3    Easteal, S.4
  • 10
    • 0029759163 scopus 로고    scopus 로고
    • How rapidly does the human mitochondrial genome evolve?
    • Howell N, Kubacka I, Mackey DA. How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 1996;59:501-9.
    • (1996) Am J Hum Genet , vol.59 , pp. 501-509
    • Howell, N.1    Kubacka, I.2    Mackey, D.A.3
  • 11
    • 0030451420 scopus 로고    scopus 로고
    • Among-site rate variation and its impact on phylogenetic analyses
    • Yang Z. Among-site rate variation and its impact on phylogenetic analyses. Trends Ecol Evol 1996;11:367-72.
    • (1996) Trends Ecol Evol , vol.11 , pp. 367-372
    • Yang, Z.1
  • 13
    • 0032472199 scopus 로고    scopus 로고
    • Calibrating the mitochondrial clock
    • Gibbins A. Calibrating the mitochondrial clock. Science 1998;279:28-9.
    • (1998) Science , vol.279 , pp. 28-29
    • Gibbins, A.1
  • 14
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 16
    • 0031056639 scopus 로고    scopus 로고
    • A novel mitochondrial tRNA phenylalanine gene mutation presenting with acute rhabdomyolysis
    • Chinnery PF, Johnson M, Taylor RW, Lightowlers RN, Turnbull DM. A novel mitochondrial tRNA phenylalanine gene mutation presenting with acute rhabdomyolysis. Ann Neurol 1997;41:408-10.
    • (1997) Ann Neurol , vol.41 , pp. 408-410
    • Chinnery, P.F.1    Johnson, M.2    Taylor, R.W.3    Lightowlers, R.N.4    Turnbull, D.M.5
  • 17
    • 0030664248 scopus 로고    scopus 로고
    • A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia
    • Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia, Neurology 1997;49:1166-8.
    • (1997) Neurology , vol.49 , pp. 1166-1168
    • Chinnery, P.F.1    Johnson, M.A.2    Taylor, R.W.3    Durward, W.F.4    Turnbull, D.M.5
  • 18
    • 0032481279 scopus 로고    scopus 로고
    • Ile gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis
    • Ile gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochem Biophys Res Commun 1998;243:47-51.
    • (1998) Biochem Biophys Res Commun , vol.243 , pp. 47-51
    • Taylor, R.W.1    Chinnery, P.F.2    Bares, M.J.D.3
  • 19
    • 0031727235 scopus 로고
    • Human mitochondrial diseases: Answering questions and questioning answers
    • Howell N. Human mitochondrial diseases: answering questions and questioning answers. Int Rev Cytol 1199;186:49-116.
    • (1199) Int Rev Cytol , vol.186 , pp. 49-116
    • Howell, N.1
  • 21
    • 0000575068 scopus 로고
    • Detection of specific mitochondrial DNA deletion in tissues of older humans
    • Cortopassi G, Arnheim N. Detection of specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res 1990;275:169-80.
    • (1990) Nucleic Acids Res , vol.275 , pp. 169-180
    • Cortopassi, G.1    Arnheim, N.2
  • 22
    • 0027933135 scopus 로고
    • Marked changes in mitochondrial DNA deletion levels in Alzheimer brains
    • Corral-Debrinski M, Horton T, Lott MT, et al. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 1994;23:471-6.
    • (1994) Genomics , vol.23 , pp. 471-476
    • Corral-Debrinski, M.1    Horton, T.2    Lott, M.T.3
  • 23
    • 0026671245 scopus 로고
    • Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease
    • Corral-Debrinski M, Shoffner JM, Lott MT, Wallace DC. Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease. Mutat Res 1992;275:169-80.
    • (1992) Mutat Res , vol.275 , pp. 169-180
    • Corral-Debrinski, M.1    Shoffner, J.M.2    Lott, M.T.3    Wallace, D.C.4
  • 24
    • 8944243541 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions in sporadic inclusion body
    • Santorelli FM, Sciacco M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body. Ann Neurol 1996;39:789-95.
    • (1996) Ann Neurol , vol.39 , pp. 789-795
    • Santorelli, F.M.1    Sciacco, M.2    Tanji, K.3
  • 25
    • 0031044461 scopus 로고    scopus 로고
    • Polymyositis with cytochrome oxidase negative muscle fibres. Early quadriceps weakness and poor response to immunosuppressive therapy
    • Blume G, Pestronk A, Frank B, Johns DR, Polymyositis with cytochrome oxidase negative muscle fibres. Early quadriceps weakness and poor response to immunosuppressive therapy. Brain 1997;120(pt 1):39-45.
    • (1997) Brain , vol.120 , Issue.PT 1 , pp. 39-45
    • Blume, G.1    Pestronk, A.2    Frank, B.3    Johns, D.R.4
  • 26
    • 0031885843 scopus 로고    scopus 로고
    • Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle
    • Brierley EJ, Johnson MA, Lightowlers RN, James OFW, Turnbull DM. Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Ann Neurol 1998;43:217-23.
    • (1998) Ann Neurol , vol.43 , pp. 217-223
    • Brierley, E.J.1    Johnson, M.A.2    Lightowlers, R.N.3    James, O.F.W.4    Turnbull, D.M.5
  • 27
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutations associated with both antibiotic-induced and non-sydromic deafness
    • Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutations associated with both antibiotic-induced and non-sydromic deafness. Nat Genet 1993;4:289-94.
    • (1993) Nat Genet , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 28
    • 0029816017 scopus 로고    scopus 로고
    • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
    • Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1996;59:481-5.
    • (1996) Am J Hum Genet , vol.59 , pp. 481-485
    • Mackey, D.A.1    Oostra, R.J.2    Rosenberg, T.3
  • 29
    • 0028928397 scopus 로고
    • Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees
    • Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA, Mackey D. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995;140:285-302.
    • (1995) Genetics , vol.140 , pp. 285-302
    • Howell, N.1    Kubacka, I.2    Halvorson, S.3    Howell, B.4    McCullough, D.A.5    Mackey, D.6
  • 30
    • 0028949749 scopus 로고
    • The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
    • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995;118(pt 2):319-37.
    • (1995) Brain , vol.118 , Issue.PT 2 , pp. 319-337
    • Riordan-Eva, P.1    Sanders, M.D.2    Govan, G.G.3    Sweeney, M.G.4    Da Costa, J.5    Harding, A.E.6
  • 31
    • 0030049093 scopus 로고    scopus 로고
    • X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
    • Pegoraro E, Carelli V, Zevianni M, et al. X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet 1996;61:356-62.
    • (1996) Am J Med Genet , vol.61 , pp. 356-362
    • Pegoraro, E.1    Carelli, V.2    Zevianni, M.3
  • 32
    • 0030806721 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve
    • Howell N. Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve. Vision Res 1997;37:3495-507.
    • (1997) Vision Res , vol.37 , pp. 3495-3507
    • Howell, N.1
  • 33
    • 0029969778 scopus 로고    scopus 로고
    • A case control study of Leber's hereditary optic neuropathy
    • Chalmers RM, Harding AE. A case control study of Leber's hereditary optic neuropathy. Brain 1996;119:1481-6.
    • (1996) Brain , vol.119 , pp. 1481-1486
    • Chalmers, R.M.1    Harding, A.E.2
  • 34
    • 0026036025 scopus 로고
    • Alternative simulataneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • Johns DR, Berman J. Alternative simulataneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 1991;174:1324-30.
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 35
    • 0027502505 scopus 로고
    • Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
    • Johns DR, Heher KL, Miller NR, Smith KH. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993;111:495-8.
    • (1993) Arch Ophthalmol , vol.111 , pp. 495-498
    • Johns, D.R.1    Heher, K.L.2    Miller, N.R.3    Smith, K.H.4
  • 36
    • 0030788483 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: How do mitochondrial DNA mutations cause degeneration of the optic nerve?
    • Howell N. Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve? J Bioenerg Biomembr 1997;29:165-73.
    • (1997) J Bioenerg Biomembr , vol.29 , pp. 165-173
    • Howell, N.1
  • 37
    • 16944363113 scopus 로고    scopus 로고
    • 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
    • Torroni A, Petrozzi M, D'Urbano L, 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. Am J Hum Genet 1997;60:1107-21.
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3
  • 39
    • 0025762450 scopus 로고
    • Segregation analysis reveals evidence of a major gene for Alzheimer disease
    • Farrer LA, Myers RH, Connor L, Cupples A, Growdon JH. Segregation analysis reveals evidence of a major gene for Alzheimer disease. Am J Hum Genet 1991;48:1026-33.
    • (1991) Am J Hum Genet , vol.48 , pp. 1026-1033
    • Farrer, L.A.1    Myers, R.H.2    Connor, L.3    Cupples, A.4    Growdon, J.H.5
  • 40
    • 0030016323 scopus 로고    scopus 로고
    • Increased risk of dementia in mothers of Alzheimer's disease cases: Evidence for maternal inheritance
    • Edland SD, Silverman JM, Peskind ER, Tsuang D, Wijsman E, Morris JC. Increased risk of dementia in mothers of Alzheimer's disease cases: evidence for maternal inheritance. Neurology 1996;47:254-6.
    • (1996) Neurology , vol.47 , pp. 254-256
    • Edland, S.D.1    Silverman, J.M.2    Peskind, E.R.3    Tsuang, D.4    Wijsman, E.5    Morris, J.C.6
  • 42
    • 0028110234 scopus 로고
    • Cortical cytochrome oxidase activity is reduced in Alzheimer's disease
    • Mutisya EM, Bowling AC, Beal MR Cortical cytochrome oxidase activity is reduced in Alzheimer's disease. J Neurochem 1994;63:2179-84.
    • (1994) J Neurochem , vol.63 , pp. 2179-2184
    • Mutisya, E.M.1    Bowling, A.C.2    Beal, M.R.3
  • 43
    • 0027420891 scopus 로고
    • Functional alternations in Alzheimer's disease: Diminution of cytochrome c oxidase in the hippocampal formation
    • Simonian NA, Hyman BT. Functional alternations in Alzheimer's disease: diminution of cytochrome c oxidase in the hippocampal formation. J Neuropathol Exp Neurol 1993;52:580-5.
    • (1993) J Neuropathol Exp Neurol , vol.52 , pp. 580-585
    • Simonian, N.A.1    Hyman, B.T.2
  • 44
    • 0029071520 scopus 로고
    • Role of mitochondria in the etiology and pathogenesis of Parkinson's disease
    • Mizuno Y, Ikebe S, Hattori N, et al. Role of mitochondria in the etiology and pathogenesis of Parkinson's disease. Biochem Biophys Acta 1995;1271:265-74.
    • (1995) Biochem Biophys Acta , vol.1271 , pp. 265-274
    • Mizuno, Y.1    Ikebe, S.2    Hattori, N.3
  • 45
    • 0030612117 scopus 로고    scopus 로고
    • Coenzyme Q10 levels correlate with the activities of complexes I and II/III in mitochondria from parkinsonian and nonparkinsonian subjects
    • Shults CW, Haas RH, Passov D, Beal MR Coenzyme Q10 levels correlate with the activities of complexes I and II/III in mitochondria from parkinsonian and nonparkinsonian subjects. Ann Neurol 1997;42:261-4.
    • (1997) Ann Neurol , vol.42 , pp. 261-264
    • Shults, C.W.1    Haas, R.H.2    Passov, D.3    Beal, M.R.4
  • 46
    • 0030945489 scopus 로고    scopus 로고
    • Respiratory chain enzyme activities in isolated mitochondria of lymphocytes from patients with Alzheimer's disease
    • Molina JA, de Bustos F, Jimenez-Jimenez FJ, et al. Respiratory chain enzyme activities in isolated mitochondria of lymphocytes from patients with Alzheimer's disease. Neurology 1997;48:636-8.
    • (1997) Neurology , vol.48 , pp. 636-638
    • Molina, J.A.1    De Bustos, F.2    Jimenez-Jimenez, F.J.3
  • 47
    • 0029908226 scopus 로고    scopus 로고
    • Origin and functional consequences of the complex I defect in Parkinson's disease
    • Swerdlow RH, Parks JK, Miller SW, et al. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann Neurol 1996;40:663-71.
    • (1996) Ann Neurol , vol.40 , pp. 663-671
    • Swerdlow, R.H.1    Parks, J.K.2    Miller, S.W.3
  • 48
    • 0030724118 scopus 로고    scopus 로고
    • Cybrids in Alzheimer's disease: A cellular model of the disease?
    • Swerdlow RH, Parks JK, Cassarino DS, et al. Cybrids in Alzheimer's disease: a cellular model of the disease? Neurology 1997;49:918-25.
    • (1997) Neurology , vol.49 , pp. 918-925
    • Swerdlow, R.H.1    Parks, J.K.2    Cassarino, D.S.3
  • 49
    • 85088605959 scopus 로고    scopus 로고
    • Cybrids in Alzheimer's disease: A cellular model of disease?
    • Schon EA, Shoubridge EA, Moraes CT. Cybrids in Alzheimer's disease: a cellular model of disease? Neurology 1998;51:326.
    • (1998) Neurology , vol.51 , pp. 326
    • Schon, E.A.1    Shoubridge, E.A.2    Moraes, C.T.3
  • 50
    • 0027200741 scopus 로고
    • Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
    • Shoffner JM, Brown MD, Torroni A, et al. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 1993;17:171-84.
    • (1993) Genomics , vol.17 , pp. 171-184
    • Shoffner, J.M.1    Brown, M.D.2    Torroni, A.3
  • 51
    • 0029091194 scopus 로고
    • A mitochondrial DNA clone is associated with increased risk for Alzheimer disease
    • Hutchin T, Cortopassi G, A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci USA 1995;92:6892-5.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6892-6895
    • Hutchin, T.1    Cortopassi, G.2
  • 54
    • 12644257598 scopus 로고    scopus 로고
    • Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease
    • Davis RE, Miller S, Herrnstadt C, et al. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Proc Natl Acad Sci USA 1997;94:4526-31.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 4526-4531
    • Davis, R.E.1    Miller, S.2    Herrnstadt, C.3
  • 55
    • 0031464288 scopus 로고    scopus 로고
    • Ancient mtDNA sequences in the human nuclear genome: A potential source of erorrs in identifying pathogenic mutations
    • Wallace DC, Stugard C, Murdock D, Schurr T, Brown MD. Ancient mtDNA sequences in the human nuclear genome: a potential source of erorrs in identifying pathogenic mutations. Proc Natl Acad Sci USA 1997;94:14900-5.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 14900-14905
    • Wallace, D.C.1    Stugard, C.2    Murdock, D.3    Schurr, T.4    Brown, M.D.5
  • 56
    • 0031449003 scopus 로고    scopus 로고
    • Apparent mtDNA heteroplasmy in Alzheimer's disease patients and normals due to PCR amplification of nuclear-embedded mtDNA pseudogenes
    • Hirano M, Shtilbans A, Mayeux R, et al. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and normals due to PCR amplification of nuclear-embedded mtDNA pseudogenes. Proc Natl Acad Sci USA 1997;94:14894-9.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 14894-14899
    • Hirano, M.1    Shtilbans, A.2    Mayeux, R.3
  • 57
    • 0029002151 scopus 로고
    • Mitochondrial and nuclear genetic contribution of female founders to a contemporary population in northeast Quebec
    • Hayer E. Mitochondrial and nuclear genetic contribution of female founders to a contemporary population in northeast Quebec. Am J Hum Genet 1994;56:1450-5.
    • (1994) Am J Hum Genet , vol.56 , pp. 1450-1455
    • Hayer, E.1
  • 58
    • 0028878492 scopus 로고
    • Origins and affinities of modern humans: A comparison of mitochondrial and nuclear genetic data
    • Jorde LB, Bamshad MJ, Watkins WS, et al. Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data, Ant J HUM Genet 1995;57:523-38.
    • (1995) Ant J HUM Genet , vol.57 , pp. 523-538
    • Jorde, L.B.1    Bamshad, M.J.2    Watkins, W.S.3
  • 59
    • 0030945730 scopus 로고    scopus 로고
    • A common mtDNA polymorphism associated with variation in plasma triglyceride concentration
    • Hegele RA, Zinman B, Hanley AJG, Harris S, Connely PW. A common mtDNA polymorphism associated with variation in plasma triglyceride concentration. Ant J Hum Genet 1997;60:1552-5.
    • (1997) Ant J Hum Genet , vol.60 , pp. 1552-1555
    • Hegele, R.A.1    Zinman, B.2    Hanley, A.J.G.3    Harris, S.4    Connely, P.W.5
  • 61
    • 0032539447 scopus 로고    scopus 로고
    • Mitochondrial genotype associated with longevity
    • Tanaka M, Gong JS, Zhang J, Yoneda M, Yagi K. Mitochondrial genotype associated with longevity. Lancet 1998;351:185-6.
    • (1998) Lancet , vol.351 , pp. 185-186
    • Tanaka, M.1    Gong, J.S.2    Zhang, J.3    Yoneda, M.4    Yagi, K.5
  • 62
    • 0026906885 scopus 로고
    • Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368-71.
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van den Ouweland, J.M.M.1    Lemkes, H.H.P.J.2    Ruitenbeck, K.3
  • 64
    • 0028326541 scopus 로고
    • Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243
    • Petruzzella V, Moracs CT, Sano MC, Bonilla E, DiMauro S, Schon EA. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet 1994;3:449-54.
    • (1994) Hum Mol Genet , vol.3 , pp. 449-454
    • Petruzzella, V.1    Moracs, C.T.2    Sano, M.C.3    Bonilla, E.4    DiMauro, S.5    Schon, E.A.6


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