Associated Papers
Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65.
Li S et al.
Febs Letters, 2020
Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndrome.
Tsuge I et al.
Human Genome Variation, 2015
A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.
Tao J et al.
Plos One, 2012
FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.
Sobol M et al.
Bmc Research Notes, 2011
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
Klar J et al.
American Journal of Human Genetics, 2009
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