Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review

PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, and Acne) is an autosomal dominant, hereditary auto-inflammatory disease arising from mutations in the PSTPIP1/CD2BP1 gene on chromosome 15q. These mutations produce a hyper-phosphorylated PSTPIP1 protein and alter its participation in activat...

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Detalles Bibliográficos
Autores principales: Smith, Elisabeth J, Allantaz, Florence, Bennett, Lynda, Zhang, Dongping, Gao, Xiaochong, Wood, Geryl, Kastner, Daniel L, Punaro, Marilynn, Aksentijevich, Ivona, Pascual, Virginia, Wise, Carol A
Formato: Texto
Lenguaje:English
Publicado: Bentham Science Publishers Ltd 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048314/
https://www.ncbi.nlm.nih.gov/pubmed/21532836
http://dx.doi.org/10.2174/138920210793175921

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