A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome - Alakbarzade, Vafa; Hameed, Abdul; Quek, Debra Q Y; 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; et al. (Nature genetics, 2015)
Keywords: 13/1; 45/23; 45/61; 631/208/207; 692/699/375/366; 82/58; Adolescent; Agriculture; Animal Genetics and Genomics; Animals; Base Sequence; Biological Transport; Biomedicine; Blood-Brain Barrier - metabolism; Brain research; Cancer Research; Case-Control Studies; Child; Child, Preschool; Families & family life; Fatty Acids, Omega-3 - metabolism; Female; Gene Function; Gene mutation; Genetic aspects; Genetic Association Studies; Genetic research; Genetic susceptibility; Genotype & phenotype; HEK293 Cells; Human Genetics; Humans; Identification and classification; Infant; letter; Ligands; Lysophosphatidylcholines - blood; Male; Medical research; Microcephaly; Microcephaly - blood; Microcephaly - genetics; Mutation; Mutation, Missense; Pedigree; Plasma; Properties; Proteins; Risk factors; Rodents; Sequence Analysis, DNA; Sodium; Syndrome; Transport proteins; Tumor Suppressor Proteins - genetics