Alternative Splicing Expands the Clinical Spectrum of NDUFS6-related Mitochondrial Disorders
Camila Armirola-Ricaurte, Noortje Zonnekein,Georgios Koutsis, Silvia Amor-Barris,Ana Lara Pelayo-Negro,Derek Atkinson,Stephanie Efthymiou,Valentina Turchetti,Argyris Dinopoulos,Antonio Garcia,Mert Karakaya,German Moris,Ayse Ipek Polat,Uluc Yis,Carmen Espinos,Liedewei Van de Vondel,Els De Vriendt,Georgia Karadima,Brunhilde Wirth,Michael Hanna,Henry Houlden,Jose Berciano,Albena Jordanova GENETICS IN MEDICINE（2024）
关键词
Charcot-Marie-Tooth,Mitochondrial disorders,NDUFS6,Peripheral neuropathy,Splicing
AI 理解论文
溯源树
样例
