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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Veröffentlicht in:PLoS genetics 2015-09, Vol.11 (9), p.e1005389-e1005389
Hauptverfasser: Furio, Laetitia, Pampalakis, Georgios, Michael, Iacovos P, Nagy, Andras, Sotiropoulou, Georgia, Hovnanian, Alain
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Sprache:eng
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