The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Investigative Dermatology - Volume 136, Issue 3, March 2016, Pages 719-721

Dharshini Sathishkumar, Elizabeth Orrin, Ana Terron-Kwiatkowski, Fiona Browne, Anna E. Martinez, Jemima E. Mellerio, Malobi Ogboli, Susannah Hoey, Linda Ozoemena, Lu Liu, David Baty, John A. McGrath, Celia Moss,