Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

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OKTAY Y., GÜNGÖR S., Zeltner L., Wiethoff S., Schoels L., Sonmezler E., ...Daha Fazla

JOURNAL OF NEUROMUSCULAR DISEASES, cilt.7, sa.3, ss.301-308, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7 Sayı: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.3233/jnd-200510
  • Dergi Adı: JOURNAL OF NEUROMUSCULAR DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.301-308
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.