title: ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia.
authors.forename: Masataka
authors.initials: M
authors.lastname: Abe
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
authors.forename: Maki
authors.initials: M
authors.lastname: Goto
authors.forename: Hideki
authors.initials: H
authors.lastname: Nakamura
authors.forename: Akari
authors.initials: A
authors.lastname: Nagasaki
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nomura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kawasaki
authors.forename: Rieko
authors.initials: R
authors.lastname: Isogai
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D002648:Child; D004820:Epidermolysis Bullosa / Q000235:genetics*; D006801:Humans; D039663:Integrin beta4 / Q000737:chemistry / Q000235:genetics*; D007409:Intestinal Atresia / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011708:Pylorus / Q000002:abnormalities*
chemical_list: C059834:ITGB4 protein, human; D039663:Integrin beta4