A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex
Titel:
A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex
Auteur:
Groves, Richard W. Liu, Lu Dopping-Hepenstal, Patricia J. Markus, Hugh S. Lovell, Patricia A. Ozoemena, Linda Lai-Cheong, Joey E. Gawler, Jeffrey Owaribe, Katsushi Hashimoto, Takashi Mellerio, Jemima E. Mee, John B. McGrath, John A.