Article
Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient.
The Journal of investigative dermatology - 1 Apr 2007
Gober Michael D, Rady Peter L, He Qin, Tucker Stephen B, Tyring Stephen K, Gaspari Anthony A
Abstract excerpt
Epidermodysplasia verruciformis (EV) is a rare genetic skin disease with an autosomal recessive trait, and the patients have susceptibility to a specific group of human papillomavirus genotypes. Recently germline mutations in EVER1/2 genes have been detected in EV patients with different ethnic origins. In this study, we have applied PCR, single-stranded conformational polymorphism analysis, and sequencing as...
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