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                                       Details for article 3 of 17 found articles
 
 
  Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
 
 
Title: Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
Author: Antonicka, Hana
Weraarpachai, Woranontee
Szigety, Katherine M.
Kopajtich, Robert
Gibson, James B.
Van Hove, Johan L.K.
Friederich, Marisa W.
Lopriore, Piervito
Neuhofer, Christiane
Van Hove, Roxanne A.
Cole, Michel A.
Reisdorph, Richard
Peterson, James T.
Dempsey, Katherine J.
Ganetzky, Rebecca D.
Mancuso, Michelangelo
Prokisch, Holger
Shoubridge, Eric A.
Appeared in: The American journal of human genetics
Paging: Volume 112 () nr. 7 pages 1699-1710
Year: 2025
Contents:
Publisher: American Society of Human Genetics
Source file: Elektronische Wetenschappelijke Tijdschriften
 
 

                             Details for article 3 of 17 found articles
 
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 Koninklijke Bibliotheek - National Library of the Netherlands