Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

• Main Authors: Harel, Tamar, Quek, Debra QY, Wong, Bernice H, Cazenave-Gassiot, Amaury, Wenk, Markus R, Fan, Hao, Berger, Itai, Shmueli, Dorit, Shaag, Avraham, Silver, David L, Elpeleg, Orly, Edvardson, Shimon
• 其他作者: BIOLOGICAL SCIENCES
• 格式: Article
• 語言: English
• 出版: SPRINGER 2020
• 主題: Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; Clinical Neurology; Neurosciences & Neurology; MFSD2A; Docosahexanoic acid; Blood-brain barrier; Microcephaly; Lysophosphatidylcholine; Lysolipid transporters; BLOOD-BRAIN-BARRIER; INTELLECTUAL DISABILITY; DEFICIENCY SYNDROME; NEUROGENESIS; SLC1A4; PREDICTION
• 在線閱讀: https://scholarbank.nus.edu.sg/handle/10635/173205
• 機構: National University of Singapore

10.1007/s10048-018-0556-6