A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

  1. Lookup NU author(s)
  2. Dr Charlotte Alston
  3. Dr Monika Olahova
  4. Dr Steven Hardy
  5. Dr Langping He
  6. Professor Robert Taylor
Author(s)Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW
Publication type Article
JournalJournal of Medical Genetics
Year2016
Volume53
Issue9
Pages634-641
ISSN (print)0022-2593
ISSN (electronic)1468-6244
Full text is available for this publication:
PublisherBMJ
URLhttp://dx.doi.org/10.1136/jmedgenet-2015-103576
DOI10.1136/jmedgenet-2015-103576
PubMed id27091925
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