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pro vyhledávání: '"Alvin Kuk"'
Autor:
Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Hao Fan, Yasser Sabr, Cheen Fei Chin, Emer O'Connor, Henry Houlden, Saima Riazuddin, Hessa S. Alsaif, David L. Silver, Elena L. Dadali, Yalda Jamshidi, Artem Borovikov, Galina Baydakova, F. A. Konovalov, Reza Maroofian, Fowzan S. Alkuraya, Mehran Beiraghi Toosi, M. Chiara Manzini, Mariasavina Severino, Federico Zara, Alvin Kuk, Abdullah Alfaifi, Ekaterina R. Lozier, Farah Ashrafzadeh, Marcello Scala, Geok Lin Chua, Mohammad Doosti, Sheikh Riazuddin
Publikováno v:
Eur J Hum Genet
Web of Science
Web of Science
Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616