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Volumn 110, Issue 3, 2002, Pages 186-188

A case of a De Novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness

Author keywords

Diabetes; MELAS; MIDD; Mitochondrial; Mutation

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0036657703     PISSN: 13813455     EISSN: None     Source Type: Journal    
DOI: 10.1076/apab.110.3.186.8294     Document Type: Article
Times cited : (18)

References (8)
  • 1
    • 0029960177 scopus 로고    scopus 로고
    • Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
    • 't Hart LM, Jansen JJ, Lemkes HH, De Knijff P, Maassen JA (1996): Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging. Hum Mutat 7: 193-197.
    • (1996) Hum Mutat , vol.7 , pp. 193-197
    • 'T Hart, L.M.1    Jansen, J.J.2    Lemkes, H.H.3    De Knijff, P.4    Maassen, J.A.5
  • 2
    • 0020173285 scopus 로고
    • Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows
    • Hauswirth WW, Laipis PJ (1982): Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci USA 79: 4686-4690.
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 4686-4690
    • Hauswirth, W.W.1    Laipis, P.J.2
  • 5
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. (2001): Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28: 223-231.
    • (2001) Nat Genet , vol.28 , pp. 223-231
    • Spelbrink, J.N.1    Li, F.Y.2    Tiranti, V.3    Nikali, K.4    Yuan, Q.P.5    Tariq, M.6
  • 6
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • Van Den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, De Vijlder MF, Struyvenberg PA, et al. (1992): Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1: 368-371.
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3    Sandkuijl, L.A.4    De Vijlder, M.F.5    Struyvenberg, P.A.6
  • 8
    • 0025924416 scopus 로고
    • Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF)
    • Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, et al. (1991): Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48: 203-211.
    • (1991) Am J Hum Genet , vol.48 , pp. 203-211
    • Zeviani, M.1    Amati, P.2    Bresolin, N.3    Antozzi, C.4    Piccolo, G.5    Toscano, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.