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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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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3072334/ https://ncbi.nlm.nih.gov/pubmed/21450060 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-4-90 |
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