The molecular genetic analysis of the expanding pachyonychia congenita case collection
British Journal of Dermatology2014Vol. 171(2), pp. 343–355
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Neil Wilson, Edel A. O’Toole, Leonard M. Milstone, C. David Hansen, Andrew A Shepherd, Elise Al-Asadi, M.E. Schwartz, W.H. Irwin McLean, Eli Sprecher, Frances J.D. Smith
Abstract
By identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, this study has confirmed, at the molecular level, the clinical diagnosis of PC in these families.
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