Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

  1. Lookup NU author(s)
  2. Dr Charlotte Alston
  3. Dr Monika Olahova
  4. Dr John Yarham
  5. Dr Langping He
  6. Professor Robert Taylor
Author(s)Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Vancoster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW
Publication type Article
JournalAmerican Journal of Human Genetics
Year2016
Volume99
Issue1
Pages217–227
ISSN (print)0002-9297
ISSN (electronic)1537-6605
Full text is available for this publication:
PublisherCell Press
URLhttp://dx.doi.org/10.1016/j.ajhg.2016.05.021
DOI10.1016/j.ajhg.2016.05.021
PubMed id27374774
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