Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

Cleft lip and cleft palate (CLP) are common disorders that occur either as part of a syndrome, where structures other than the lip and palate are affected, or in the absence of other anomalies. Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders chara...

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Main Authors: Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, Gakhar, Lokesh, Subramanian, Ramaswamy, Schutte, Brian C., Dixon, Michael J., Shore, Paul
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2638798/
https://ncbi.nlm.nih.gov/pubmed/19036739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn381
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