메뉴 건너뛰기




Volumn 43, Issue 10, 1997, Pages 1857-1861

Direct detection of multiple point mutations in mitochondrial DNA

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA; TRANSFER RNA;

EID: 0030850573     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.10.1857     Document Type: Article
Times cited : (77)

References (17)
  • 2
    • 0029760723 scopus 로고    scopus 로고
    • Regulation and function of the mitochondrial genome
    • Jeong-Yu S, Clayton D. Regulation and function of the mitochondrial genome. J Inherit Metab Dis 1996;19:443-51.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 443-451
    • Jeong-Yu, S.1    Clayton, D.2
  • 3
    • 0029638664 scopus 로고    scopus 로고
    • Mitochondrial DNA and disease
    • Johns D. Mitochondrial DNA and disease. N Engl J Med 1996; 333:638-44.
    • (1996) N Engl J Med , vol.333 , pp. 638-644
    • Johns, D.1
  • 4
    • 0027525492 scopus 로고
    • Mitochondrial encephalomyopathies
    • DiMauro S, Moraes C. Mitochondrial encephalomyopathies. Arch Neural 1993;50:1197-208.
    • (1993) Arch Neural , vol.50 , pp. 1197-1208
    • DiMauro, S.1    Moraes, C.2
  • 6
    • 0026080111 scopus 로고
    • A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
    • Lahiri D, Nurnberger J Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991;19:5444.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5444
    • Lahiri, D.1    Nurnberger Jr., J.2
  • 8
    • 0023883150 scopus 로고
    • Deletions of mitochondrial DNA in patients with mitochondrial myopathy
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of mitochondrial DNA in patients with mitochondrial myopathy. Nature 1988;331: 717-9.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 9
    • 0028114251 scopus 로고
    • A robotics-assisted procedure for large scale cystic fibrosis mutation analysis
    • DeMarchi JM, Richards CS, Fenwick RG, Pace R, Beaudet AL. A robotics-assisted procedure for large scale cystic fibrosis mutation analysis. Hum Mutat 1994;4:281-90.
    • (1994) Hum Mutat , vol.4 , pp. 281-290
    • DeMarchi, J.M.1    Richards, C.S.2    Fenwick, R.G.3    Pace, R.4    Beaudet, A.L.5
  • 10
    • 0028182912 scopus 로고
    • A T to C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
    • Santorelli F, Shanske S, Jain K, Tick D, Schon E, DiMauro S. A T to C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 1994;44:972-4.
    • (1994) Neurology , vol.44 , pp. 972-974
    • Santorelli, F.1    Shanske, S.2    Jain, K.3    Tick, D.4    Schon, E.5    DiMauro, S.6
  • 11
    • 0026718556 scopus 로고
    • Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
    • Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-49.
    • (1992) Am J Hum Genet , vol.50 , pp. 934-949
    • Moraes, C.1    Ricci, E.2    Bonilla, E.3    DiMauro, S.4    Schon, E.5
  • 12
    • 0028867390 scopus 로고
    • Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis
    • Lam CW, Jain K, Chan KY, Silva DK, Chan YW, Wong LJC. Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. J Clin Pathol: Clin Mol Pathol 1995;48:M285-8.
    • (1995) J Clin Pathol: Clin Mol Pathol , vol.48
    • Lam, C.W.1    Jain, K.2    Chan, K.Y.3    Silva, D.K.4    Chan, Y.W.5    Wong, L.J.C.6
  • 13
    • 0031011981 scopus 로고    scopus 로고
    • Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy
    • Schollen E, Vandenberk P, Cassiman J, Matthijs G. Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy. Clin Chem 1997;43:18-23.
    • (1997) Clin Chem , vol.43 , pp. 18-23
    • Schollen, E.1    Vandenberk, P.2    Cassiman, J.3    Matthijs, G.4
  • 14
    • 0025666322 scopus 로고
    • Leu(UUR)gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu(UUR)gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;384:651-3.
    • (1990) Nature , vol.384 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 16
    • 0030837435 scopus 로고    scopus 로고
    • Macular pattern retinal dystrophy, adult onset diabetes and deafness: A family study of A3243G mitochondrial heteroplasmy
    • Harrison TJ, Boles RG, Johnson DR, LeBlond C, Wong L. Macular pattern retinal dystrophy, adult onset diabetes and deafness: a family study of A3243G mitochondrial heteroplasmy. Am J Ophthalmol 1997;124:217-21.
    • (1997) Am J Ophthalmol , vol.124 , pp. 217-221
    • Harrison, T.J.1    Boles, R.G.2    Johnson, D.R.3    LeBlond, C.4    Wong, L.5
  • 17
    • 0030800047 scopus 로고    scopus 로고
    • Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA
    • Wong L, Lam C. Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA. Clin Chem 1997;43: 1241-3.
    • (1997) Clin Chem , vol.43 , pp. 1241-1243
    • Wong, L.1    Lam, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.