Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individ...

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Hlavní autoři: Klar, Joakim, Schweiger, Martina, Zimmerman, Robert, Zechner, Rudolf, Li, Hao, Törmä, Hans, Vahlquist, Anders, Bouadjar, Bakar, Dahl, Niklas, Fischer, Judith
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2009
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2725242/
https://ncbi.nlm.nih.gov/pubmed/19631310
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.06.021
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