Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 89, Issue 2, February 2018, Pages 198-201

John Y.W. Lee, Assem Farag, Amira Tawdy, Lu Liu, Magdalene Michael, Ellie Rashidghamat, Sophia Aristodemou, Chao-Kai Hsu, Michael A. Simpson, Maddy Parsons, John A. McGrath,