A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

由 Alakbarzade, Vafa, Hameed, Abdul, Quek, Debra QY, Chioza, Barry A, Baple, Emma L, Cazenave-Gassiot, Amaury, Nguyen, Long N, Wenk, Markus R, Ahmad, Arshia Q, Sreekantan-Nair, Ajith, Weedon, Michael N, Rich, Phil, Patton, Michael A, Warner, Thomas T, Silver, David L, Crosby, Andrew H
出版 2020

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

由 Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Fernandez-Murray, J Pedro, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H
出版 2020