Article info
PDFBiochemical genetics
Original article
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
- Correspondence to Professor Akio Kihara, Faculty of Pharmaceutical Sciences, Laboratory of Biochemistry, Hokkaido University, Sapporo 060-0812, Japan; kihara{at}pharm.hokudai.ac.jp and Professor Markus Schuelke, Department of Neuropediatrics, Charité Universitätsmedizin Berlin, Berlin D-13353, Germany; markus.schuelke{at}charite.de
Citation
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Publication history
- Received August 30, 2018
- Revised November 7, 2018
- Accepted November 13, 2018
- First published November 28, 2018.
Online issue publication
February 22, 2019
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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.