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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

Lim, Sze Chern, Smith, Katherine R, Stroud, David A, Compton, Alison G, Tucker, Elena J, Dasvarma, Ayan, Gandolfo, Luke C, Marum, Justine E, McKenzie, Matthew, Peters, Heidi L, Mowat, David, Procopis, Peter G, Wilcken, Bridget, Christodoulou, John, Brown, Garry K, Ryan, Michael T, Bahlo, Melanie and Thorburn, David R 2014, A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome, American Journal of Human Genetics, vol. 94, no. 2, pp. 209-222, doi: 10.1016/j.ajhg.2013.12.015.

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Title A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome
Author(s) Lim, Sze Chern
Smith, Katherine R
Stroud, David A
Compton, Alison G
Tucker, Elena J
Dasvarma, Ayan
Gandolfo, Luke C
Marum, Justine E
McKenzie, MatthewORCID iD for McKenzie, Matthew orcid.org/0000-0001-7508-1800
Peters, Heidi L
Mowat, David
Procopis, Peter G
Wilcken, Bridget
Christodoulou, John
Brown, Garry K
Ryan, Michael T
Bahlo, Melanie
Thorburn, David R
Journal name American Journal of Human Genetics
Volume number 94
Issue number 2
Start page 209
End page 222
Total pages 14
Publisher Elsevier
Place of publication Amsterdam, The Netherlands
Publication date 2014-02-06
ISSN 0002-9297
1537-6605
Keyword(s) Chromosomes, Human, Pair 19
Cyclooxygenase 2
Cytochrome-c Oxidase Deficiency
DNA, Mitochondrial
Female
Founder Effect
Genetic Complementation Test
Genetic Linkage
Genome-Wide Association Study
Haplotypes
Homozygote
Humans
Infant
Lebanon
Leigh Disease
Male
Mitochondria
Mitochondrial Proteins
Mutation
Pedigree
Polymorphism, Single Nucleotide
Proteomics
Sequence Analysis, DNA
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
CYTOCHROME-C-OXIDASE
PROGRESSIVE MYOCLONUS EPILEPSY
DNA-SEQUENCING DATA
SACCHAROMYCES-CEREVISIAE
INBREEDING COEFFICIENT
HIGH-THROUGHPUT
COX I
GENE
CHAIN
Language eng
DOI 10.1016/j.ajhg.2013.12.015
Field of Research 06 Biological Sciences
11 Medical And Health Sciences
HERDC Research category C1.1 Refereed article in a scholarly journal
ERA Research output type C Journal article
Copyright notice ©2014, The American Society of Human Genetics
Free to Read? Yes
Persistent URL http://hdl.handle.net/10536/DRO/DU:30112226

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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.