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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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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spelling	sg-nus-scholar.10635-1732052024-04-16T06:04:09Z Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination 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 BIOCHEMISTRY BIOLOGICAL SCIENCES 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 10.1007/s10048-018-0556-6 NEUROGENETICS 19 4 227-235 2020-08-21T00:05:53Z 2020-08-21T00:05:53Z 2018-12-01 2020-06-17T03:44:58Z Article 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 (2018-12-01). Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination. NEUROGENETICS 19 (4) : 227-235. ScholarBank@NUS Repository. https://doi.org/10.1007/s10048-018-0556-6 13646745 13646753 https://scholarbank.nus.edu.sg/handle/10635/173205 en SPRINGER Elements
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
language	English
topic	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
spellingShingle	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 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 Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
description	10.1007/s10048-018-0556-6
author2	BIOCHEMISTRY
author_facet	BIOCHEMISTRY 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
format	Article
author	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
author_sort	Harel, Tamar
title	Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
title_short	Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
title_full	Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
title_fullStr	Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
title_full_unstemmed	Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
title_sort	homozygous mutation in mfsd2a, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
publisher	SPRINGER
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/173205
_version_	1800914088959672320

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

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