The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 53, Issue 3, March 2009, Pages 222-225

B. Drera, M. Ritelli, G. Tadini, N. Zoppi, M. Venturini, P.G. Calzavara-Pinton, S. Barlati, M. Colombi,