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Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

Sugiana, C, Pagliarini, DJ, McKenzie, Matthew, Kirby, DM, Salemi, R, Abu-Amero, KK, Dahl, HHM, Hutchison, WM, Vascotto, KA, Smith, SM, Newbold, RF, Christodoulou, J, Calvo, S, Mootha, VK, Ryan, MT and Thorburn, DR 2008, Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease, American Journal of Human Genetics, vol. 83, no. 4, pp. 468-478, doi: 10.1016/j.ajhg.2008.09.009.

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Title Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease
Author(s) Sugiana, C
Pagliarini, DJ
McKenzie, MatthewORCID iD for McKenzie, Matthew orcid.org/0000-0001-7508-1800
Kirby, DM
Salemi, R
Abu-Amero, KK
Dahl, HHM
Hutchison, WM
Vascotto, KA
Smith, SM
Newbold, RF
Christodoulou, J
Calvo, S
Mootha, VK
Ryan, MT
Thorburn, DR
Journal name American Journal of Human Genetics
Volume number 83
Issue number 4
Start page 468
End page 478
Total pages 11
Publisher Elsevier
Place of publication Amsterdam, The Netherlands
Publication date 2008-10-10
ISSN 0002-9297
Keyword(s) Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
RESPIRATORY-CHAIN DISORDERS
CYTOCHROME-C-OXIDASE
LEIGH-SYNDROME
ENCODED SUBUNITS
DEFICIENCY
GENE
PROTEIN
ENCEPHALOMYOPATHY
SUPERCOMPLEXES
ENCEPHALOPATHY
Language eng
DOI 10.1016/j.ajhg.2008.09.009
Field of Research 06 Biological Sciences
11 Medical And Health Sciences
HERDC Research category CN.1 Other journal article
Free to Read? Yes
Persistent URL http://hdl.handle.net/10536/DRO/DU:30112466

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Every reasonable effort has been made to ensure that permission has been obtained for items included in DRO. If you believe that your rights have been infringed by this repository, please contact drosupport@deakin.edu.au.