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Volumn 51, Issue 10, 2006, Pages 851-856

Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy

Author keywords

Chinese; Epidemiology; Leber hereditary optic neuropathy; mtDNA mutation; Sporadic

Indexed keywords

MITOCHONDRIAL DNA;

EID: 33749057750     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0032-2     Document Type: Article
Times cited : (90)

References (28)
  • 1
    • 0029665976 scopus 로고    scopus 로고
    • Sporadic Leber hereditary optic neuropathy in Australia and New Zealand
    • Chan C, Mackey DA, Byrne E (1996) Sporadic Leber hereditary optic neuropathy in Australia and New Zealand. Aust N Z J Ophthalmol 24:7-14
    • (1996) Aust N Z J Ophthalmol , vol.24 , pp. 7-14
    • Chan, C.1    Mackey, D.A.2    Byrne, E.3
  • 4
    • 0026499997 scopus 로고
    • Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy
    • Howell N, McCullough D, Bodis-Wollner I (1992) Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy. Am J Hum Genet 50:443-446
    • (1992) Am J Hum Genet , vol.50 , pp. 443-446
    • Howell, N.1    McCullough, D.2    Bodis-Wollner, I.3
  • 6
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ, Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551-1157
    • (1992) Biochem Biophys Res Commun , vol.187 , pp. 1551-11157
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 7
    • 0346034539 scopus 로고    scopus 로고
    • Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans
    • Kim JY, Hwang JM, Chang BL, Park SS (2003) Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans. J Neurol 250:278-281
    • (2003) J Neurol , vol.250 , pp. 278-281
    • Kim, J.Y.1    Hwang, J.M.2    Chang, B.L.3    Park, S.S.4
  • 11
    • 0031965731 scopus 로고    scopus 로고
    • Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
    • Mashima Y, Yamada K, Wakakura M, Kigasawa K, Kudoh J, Shimizu N, Oguchi Y (1998) Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy. Curr Eye Res 17:403-408
    • (1998) Curr Eye Res , vol.17 , pp. 403-408
    • Mashima, Y.1    Yamada, K.2    Wakakura, M.3    Kigasawa, K.4    Kudoh, J.5    Shimizu, N.6    Oguchi, Y.7
  • 13
    • 0027172546 scopus 로고
    • Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification
    • Norby S (1993) Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification. Hum Mutat 2:309-313
    • (1993) Hum Mutat , vol.2 , pp. 309-313
    • Norby, S.1
  • 14
    • 0025781645 scopus 로고
    • Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming
    • Norby S, Lestienne P, Nelson I, Rosenberg T (1991) Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming. Biochem Biophys Res Commun 175:631-636
    • (1991) Biochem Biophys Res Commun , vol.175 , pp. 631-636
    • Norby, S.1    Lestienne, P.2    Nelson, I.3    Rosenberg, T.4
  • 16
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5:874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 17
    • 0036189783 scopus 로고    scopus 로고
    • Differential occurrence of mutations causative of eye diseases in the Chinese population
    • Pang CP, Lam DS (2002) Differential occurrence of mutations causative of eye diseases in the Chinese population. Hum Mutat 19:189-208
    • (2002) Hum Mutat , vol.19 , pp. 189-208
    • Pang, C.P.1    Lam, D.S.2
  • 19
    • 21144457788 scopus 로고    scopus 로고
    • Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy
    • Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 332:614-621
    • (2005) Biochem Biophys Res Commun , vol.332 , pp. 614-621
    • Qian, Y.1    Zhou, X.2    Hu, Y.3    Tong, Y.4    Li, R.5    Lu, F.6    Yang, H.7    Mo, J.Q.8    Qu, J.9    Guan, M.X.10
  • 21
    • 10644246729 scopus 로고    scopus 로고
    • Molecular analysis for mitochondrial DNA disorders
    • Shanske S, Wong LJ (2004) Molecular analysis for mitochondrial DNA disorders. Mitochondrion 4:403-415
    • (2004) Mitochondrion , vol.4 , pp. 403-415
    • Shanske, S.1    Wong, L.J.2
  • 22
    • 0042708221 scopus 로고    scopus 로고
    • Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy
    • Taylor RW, Jobling MS, Turnbull DM, Chinnery PF (2003) Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy. J Med Genet 40:e85
    • (2003) J Med Genet , vol.40
    • Taylor, R.W.1    Jobling, M.S.2    Turnbull, D.M.3    Chinnery, P.F.4
  • 23
    • 9944256480 scopus 로고    scopus 로고
    • Molecular genetic basis of primary inherited optic neuropathies
    • Votruba M (2004) Molecular genetic basis of primary inherited optic neuropathies. Eye 18:1126-1132
    • (2004) Eye , vol.18 , pp. 1126-1132
    • Votruba, M.1
  • 25
    • 0035462602 scopus 로고    scopus 로고
    • DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University Hospital
    • Yamada K, Mashima Y, Hiida Y, Oguchi Y (2001) DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University Hospital. Nippon Ganka Gakkai Zasshi 105:608-613
    • (2001) Nippon Ganka Gakkai Zasshi , vol.105 , pp. 608-613
    • Yamada, K.1    Mashima, Y.2    Hiida, Y.3    Oguchi, Y.4
  • 26
    • 0033136971 scopus 로고    scopus 로고
    • Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy
    • Yen MY, Lee HC, Wang AG, Chang WL, Liu JH, Wei YH (1999) Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy. Jpn J Ophthalmol 43:196-200
    • (1999) Jpn J Ophthalmol , vol.43 , pp. 196-200
    • Yen, M.Y.1    Lee, H.C.2    Wang, A.G.3    Chang, W.L.4    Liu, J.H.5    Wei, Y.H.6
  • 27
    • 0036187340 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy - The spectrum of mitochondrial DNA mutations in Chinese patients
    • Yen MY, Wang AG, Chang WL, Hsu WM, Liu JH, Wei YH (2002) Leber's hereditary optic neuropathy - the spectrum of mitochondrial DNA mutations in Chinese patients. Jpn J Ophthalmol 46:45-51
    • (2002) Jpn J Ophthalmol , vol.46 , pp. 45-51
    • Yen, M.Y.1    Wang, A.G.2    Chang, W.L.3    Hsu, W.M.4    Liu, J.H.5    Wei, Y.H.6
  • 28
    • 33645235069 scopus 로고    scopus 로고
    • De novo COX2 mutation in a LHON family of Caucasian origin: Implication for the role of mtDNA polymorphism in human pathology
    • Zhadanov SI, Atamanov VV, Zhadanov NI, Schurr TG (2006) De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology. J Hum Genet 51:161-170
    • (2006) J Hum Genet , vol.51 , pp. 161-170
    • Zhadanov, S.I.1    Atamanov, V.V.2    Zhadanov, N.I.3    Schurr, T.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.