FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome
<p>Abstract</p> <p>Background</p> <p>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 prote...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2011-03-01
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| Serie: | BMC Research Notes |
| Accesso online: | http://www.biomedcentral.com/1756-0500/4/90 |
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