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Volumn 4, Issue 3, 2012, Pages

Targeted next-generation sequencing expands the spectrum of mitochondrial disorders

Author keywords

Heterogeneity; Mitochondria; Mitochondrial disorders; Mutations; Next generation sequencing

Indexed keywords

MITOCHONDRIAL PROTEIN;

EID: 84858591772     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm321     Document Type: Note
Times cited : (4)

References (10)
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  • 3
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    • Recent advances in the genetics of mitochondrial encephalopathies.
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    • (2010) Curr Neurol Neurosci Rep , vol.10 , pp. 277-285
    • Tucker, E.J.1    Compton, A.G.2    Thorburn, D.R.3
  • 4
    • 84856734831 scopus 로고    scopus 로고
    • Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.
    • 10.1093/brain/awr261, 22036961
    • Nouws J, Nijtmans LG, Smeitink JA, Vogel RO. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain 2012, 135:12-22. 10.1093/brain/awr261, 22036961.
    • (2012) Brain , vol.135 , pp. 12-22
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    • The mitochondrial proteome and human disease.
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    • Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet 2010, 11:25-44. 10.1146/annurev-genom-082509-141720, 20690818.
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    • Calvo, S.E.1    Mootha, V.K.2
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    • Massively parallel sequencing and rare disease.
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    • Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Hum Mol Genet 2010, 19:R119-124. 10.1093/hmg/ddq390, 2953741, 20846941.
    • (2010) Hum Mol Genet , vol.19
    • Ng, S.B.1    Nickerson, D.A.2    Bamshad, M.J.3    Shendure, J.4
  • 8
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    • Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR. Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat 2012, 33:411-418. 10.1002/humu.21654, 22072591.
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  • 9
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.