Original paper
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome
Abstract
Ichthyosis Prematurity Syndrome (IPS) is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4) and a specific reduction in the incorporation of very long chain fatty acids (VLCFA) into cellular lipids. We screened probands from five families segregating IPS for...
Paper Details
Title
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome
Published Date
Mar 30, 2011
Journal
Volume
4
Issue
1
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Notes
History