FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

BACKGROUND: 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 specif...

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Detalles Bibliográficos
Autores principales: Sobol, Maria, Dahl, Niklas, Klar, Joakim
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072334/
https://www.ncbi.nlm.nih.gov/pubmed/21450060
http://dx.doi.org/10.1186/1756-0500-4-90

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072334/
https://www.ncbi.nlm.nih.gov/pubmed/21450060
http://dx.doi.org/10.1186/1756-0500-4-90

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