Article
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.
Human molecular genetics - 1 Jan 1999
Armstrong D K, McKenna K E, Purkis P E, Green K J, Eady R A, Leigh I M, Hughes A E
Abstract excerpt
Desmosomes are highly organized intercellular adhesive junctions that are particularly prominent in epidermis and other tissues experiencing mechanical stress. Desmoplakin, a constitutive component of the desmosomal plaque, is the most abundant protein present in such junctions and plays a critical role in linking the intermediate filament network to the plasma membrane in these tissues. Here we report the first...
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