A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele.
Kao CH, Chen SJ, Hwang B, Yang AH, Hsu CY, Huang CH.
J Chin Med Assoc. 2006 Oct;69(10):503-6. doi: 10.1016/S1726-4901(09)70318-1.
PMID:17098678
A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel.
The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States.
Paller AS, Fine JD, Kaplan S, Pearson RW.
Arch Dermatol. 1986 Jun;122(6):704-10.
PMID:3521495
Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa.
Pohla-Gubo G, Lazarova Z, Giudice GJ, Liebert M, Grassegger A, Hintner H, Yancey KB.