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收藏Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment双等位基因NDUFA13变异导致神经发育表型,逐渐神经功能缺损
Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
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收藏Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit
Molina-Granada, David; Gonzalez-Vioque, Emiliano; Dibley, Marris G.; Cabrera-Perez, Raquel; Vallbona-Garcia, Antoni; Torres-Torronteras, Javier; Sazanov, Leonid A.; Ryan, Michael T.; Camara, Yolanda; Marti, Ramon
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