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Article

Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome.

Journal of dermatological science - 1 Jan 2011

Natsuga Ken, Nishie Wataru, Shinkuma Satoru, Nakamura Hideki, Matsushima Yoichiro, Tatsuta Aya, Komine Mayumi, Shimizu Hiroshi

Abstract excerpt

BACKGROUND: Kindler syndrome (KS) is a rare, inherited skin disease characterized by blister formation and generalized poikiloderma. Mutations in KIND1, which encodes kindlin-1, are responsible for KS. c.1089del/1089+1del is a recurrent splice-site deletion mutation in KS patients. OBJECTIVE: To elucidate the effects of c.1089del/1089+1del at the mRNA and protein level. METHODS: Two KS patients with...

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Identifiers

PMID: 21146372
DOI: 10.1016/j.jdermsci.2010.11.008

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