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

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

10.1007/s10048-018-0556-6

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Bibliographic Details
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
Other Authors: BIOCHEMISTRY
Format: Article
Language:English
Published: SPRINGER 2020
Subjects:
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
Online Access:https://scholarbank.nus.edu.sg/handle/10635/173205
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Institution: National University of Singapore
Language: English

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https://scholarbank.nus.edu.sg/handle/10635/173205

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