A RECESSIVE SPLICE-SITE MUTATION IN THE COL7A1 GENE PREVENTS PROCESSING OF PROCOLLAGEN-VII AND, IN COMBINATION WITH GLYCINE SUBSTITUTION MUTATIONS, INCREASES THE CLINICAL SEVERITY OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA (EBD)
Jo. Winberg et al., A RECESSIVE SPLICE-SITE MUTATION IN THE COL7A1 GENE PREVENTS PROCESSING OF PROCOLLAGEN-VII AND, IN COMBINATION WITH GLYCINE SUBSTITUTION MUTATIONS, INCREASES THE CLINICAL SEVERITY OF DYSTROPHIC EPIDERMOLYSIS-BULLOSA (EBD), Journal of investigative dermatology, 108(4), 1997, pp. 649-649