Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Armirola-Ricaurte C., Zonnekein N., Koutsis G., Amor-Barris S., Pelayo-Negro A. L., Atkinson D., ...Daha Fazla

Genetics in medicine : official journal of the American College of Medical Genetics, cilt.26, sa.6, ss.101117, 2024 (SCI-Expanded, Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 26 Sayı: 6
• Basım Tarihi: 2024
• Doi Numarası: 10.1016/j.gim.2024.101117
• Dergi Adı: Genetics in medicine : official journal of the American College of Medical Genetics
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
• Sayfa Sayıları: ss.101117
• Anahtar Kelimeler: Charcot-Marie-Tooth, Mitochondrial disorders, NDUFS6, Peripheral neuropathy, Splicing
• Dokuz Eylül Üniversitesi Adresli: Evet