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Volumn 13, Issue , 2014, Pages 37-41

Adult-onset fatal neurohepatopathy in a woman caused by MPV17 mutation

Author keywords

Lactic acidosis; Macrocytic anemia; Megaloblastic anemia; Premature ovarian failure; Secondary amenorrhea

Indexed keywords


EID: 85010719395     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_267     Document Type: Chapter
Times cited : (12)

References (14)
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  • 2
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  • 3
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    • Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator
    • Dallabona C, Marsano RM, Arzuffi P et al (2010) Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. Hum Mol Genet 19(6):1098–1107
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  • 4
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    • El-Hattab, A.W.1    Li, F.Y.2    Schmitt, E.3    Zhang, S.4    Craigen, W.J.5    Wong, L.J.6
  • 6
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    • MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions
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  • 8
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    • Kim JH, Lee SH, Cho SW et al (2004) The quantitative analysis of mitochondrial DNA copy number in premature ovarian failure patients using the real-time polymerase chain reaction. Korean J Obstet Gynecol 47(1):16–24
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.