Inactivating mutations in MFSD2A , required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Nature genetics(2015)
摘要
Joseph Gleeson, David Silver and colleagues show that inactivating mutations in MFSD2A , which encodes an essential transporter of long-chain fatty acids in brain, cause a lethal microcephaly syndrome. These results establish a link between the activity of this transporter and human brain growth.
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关键词
Medical genetics,Neurodevelopmental disorders,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics
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