Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome - Guemez-Gamboa, Alicia; Nguyen, Long N; Yang, Hongbo; Zaki, Maha S; Kara, Majdi; Ben-Omran, Tawfeg; Akizu, Naiara; Rosti, Rasim Ozgur; Rosti, Basak; Scott, Eric; Schroth, Jana; Copeland, Brett; et al. (Nature genetics, 2015)
Keywords: 13; 13/51; 14; 631/208/1516; 692/699/375/366; 82; Adolescent; Agriculture; Animal Genetics and Genomics; Animals; Biological Transport; Biomedicine; Blood-Brain Barrier - metabolism; Brain - metabolism; Brain research; Cancer Research; Case-Control Studies; Child; Child, Preschool; Consanguinity; Endothelium; Fatty acids; Fatty Acids, Omega-3 - metabolism; Female; Gene Function; Gene mutation; Genes, Lethal; Genetic aspects; Genetic Association Studies; Health aspects; HEK293 Cells; Human Genetics; Humans; Identification and classification; Infant; letter; Lipids; Male; Mice, Knockout; Microcephaly; Microcephaly - genetics; Microscopy; Mutation; Mutation, Missense; Omega 3 fatty acids; Proteins; Risk factors; Rodents; Studies; Syndrome; Tumor Suppressor Proteins - genetics; Zebrafish