Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

  1. Lookup NU author(s)
  2. Dr Monika Olahova
  3. Dr Kyle Thompson
  4. Dr Steven Hardy
  5. Maria-Eleni Anagnostou
  6. Dr Kathryn White
  7. Tracey Davey
  8. Professor Robert Lightowlers
  9. Professor Zofia Chrzanowska-Lightowlers
  10. Professor Bobby McFarland
  11. Professor Robert Taylor
Author(s)Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZMA, McFarland R, Deshpande C, Bonnen PE, Taylor RW
Publication type Article
JournalJournal of Inherited Metabolic Disease
Year2017
Volume40
Issue1
Pages121-130
ISSN (print)0141-8955
ISSN (electronic)1573-2665
Full text is available for this publication:
PublisherSpringer Netherlands
URLhttp://dx.doi.org/10.1007/s10545-016-9977-2
DOI10.1007/s10545-016-9977-2
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