Article
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
The Journal of investigative dermatology - 1 Sept 2000
Whittock N V, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady R A, McGrath J A
Abstract excerpt
Ectodermal dysplasia/skin fragility syndrome is a recently described autosomal recessive disease affecting skin, nails, and hair (MIM 604536), that results from mutations in plakophilin 1, a structural component of desmosomes. We report a new plakophilin 1 mutation in an affected patient as well as detailing the intron-exon organization of the gene to facilitate future polymerase chain reaction-based mutation...
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