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Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
Neurogenetics. 2018 Dec;19(4):227-235. doi: 10.1007/s10048-018-0556-6. Epub 2018 Jul 24.
Neurogenetics. 2018.
PMID: 30043326
Movement of accessible plasma membrane cholesterol by the GRAMD1 lipid transfer protein complex.
Naito T, Ercan B, Krshnan L, Triebl A, Koh DHZ, Wei FY, Tomizawa K, Torta FT, Wenk MR, Saheki Y.
Naito T, et al.
Elife. 2019 Nov 14;8:e51401. doi: 10.7554/eLife.51401.
Elife. 2019.
PMID: 31724953
Free PMC article.
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