A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
Inoue M., Tamai K., Shimizu H., Owaribe K., Nakama T., Hashimoto T., McGrath J.A.
J. Invest. Dermatol. 114:1061-1064(2000) [PubMed] [Europe PMC]