Published in
Wiley, Journal of Inherited Metabolic Disease, 2022
DOI: 10.1002/jimd.12526
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A homozygous splice variant in ATP5PO , disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Journal article published in 2022 by
Mythily Ganapathi 
,
Gaelle Friocourt,
Naig Gueguen,
Marisa W. Friederich,
Gerald Le Gac,
Volkan Okur ,
Nadège Loaëc,
Thomas Ludwig,
Chandran Ka,
Kurenai Tanji,
Pascale Marcorelles,
Evangelos Theodorou,
Angela Lignelli‐Dipple,
Cécile Voisset,
Melissa A. Walker
and other authors.
,
Gaelle Friocourt,
Naig Gueguen,
Marisa W. Friederich,
Gerald Le Gac,
Volkan Okur ,
Nadège Loaëc,
Thomas Ludwig,
Chandran Ka,
Kurenai Tanji,
Pascale Marcorelles,
Evangelos Theodorou,
Angela Lignelli‐Dipple,
Cécile Voisset,
Melissa A. Walker
and other authors.
This paper is made freely available by the publisher.
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