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KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome

Netherton Syndrome (NS) is a rare and severe autosomal recessive skin disease which can be life-threatening in infants. The disease is characterized by extensive skin desquamation, inflammation, allergic manifestations and hair shaft defects. NS is caused by loss-of-function mutations in SPINK5 enco...

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Detalles Bibliográficos
Autores principales: Furio, Laetitia, Pampalakis, Georgios, Michael, Iacovos P., Nagy, Andras, Sotiropoulou, Georgia, Hovnanian, Alain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577096/
https://www.ncbi.nlm.nih.gov/pubmed/26390218
http://dx.doi.org/10.1371/journal.pgen.1005389