Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa

Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 51, Issue 1, July 2008, Pages 58-61

Marco Castori, Giovanna Floriddia, Elisa Pisaneschi, Claudia Covaciu, Mauro Paradisi, Isabella Torrente, Daniele Castiglia,