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Elsevier, Journal of Biological Chemistry, 51(288), p. 36741-36749, 2013

DOI: 10.1074/jbc.m113.493221

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Mutation for Nonsyndromic Mental Retardation in the trans-2-Enoyl-CoA Reductase TER Gene Involved in Fatty Acid Elongation Impairs the Enzyme Activity and Stability, Leading to Change in Sphingolipid Profile*

Journal article published in 2013 by Kensuke Abe, Yusuke Ohno, Takayuki Sassa, Ryo Taguchi, Minal Çalışkan, Minal Caliskan, Carole Ober ORCID, Akio Kihara
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Background: The P182L mutation in the trans-2-enoyl-CoA reductase (TER) gene required for very long-chain fatty acid (VLCFA) synthesis causes nonsyndromic mental retardation.