A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

Published 2014 View Full Article

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Title
A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity
Authors
Keywords
Ichthyosis, Phenotypic variability, <em class=EmphasisTypeItalic >ELOVL4</em>, Non-sense mutation
Journal
BMC Medical Genetics
Volume 15, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-02-26
DOI
10.1186/1471-2350-15-25
References
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