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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

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اقرأ أكثر حفظ في قائمتي

المؤلفون: Alston, Charlotte L.; Veling, Mike T.; Heidler, Juliana; Taylor, Lucie S.; Alaimo, Joseph T.; Sung, Andrew Y.; He, Langping; Hopton, Sila; Broomfield, Alexander; Pavaine, Julija; Diaz, Jullianne; Leon, Eyby; Wolf, Philipp; McFarland, Robert; Prokisch, Holger; Wortmann, Saskia B.; Bonnen, Penelope E.; Wittig, Ilka; Pagliarini, David J.; Taylor, Robert W.
الموضوع:
info:eu-repo/classification/ddc
نوع التسجيلة:
article in journal/newspaper
اللغة:
unknown

معلومة اضافية
- بيانات النشر:
  Elsevier BV
- الموضوع:
  2020
- Collection:
  Munich University of Technology (TUM): mediaTUM
- File Description:
  application/pdf
- Relation:
  https://mediatum.ub.tum.de/1554243; https://mediatum.ub.tum.de/doc/1554243/document.pdf
- الرقم المعرف:
  10.1016/j.ajhg.2019.12.001
- الدخول الالكتروني :
  https://mediatum.ub.tum.de/1554243
  https://mediatum.ub.tum.de/doc/1554243/document.pdf
  https://doi.org/10.1016/j.ajhg.2019.12.001
- Rights:
  info:eu-repo/semantics/openAccess
- الرقم المعرف:
  edsbas.7FF331F8

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