ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia.
Abe
Masataka
M
Sawamura
Daisuke
D
Goto
Maki
M
Nakamura
Hideki
H
Nagasaki
Akari
A
Nomura
Yukiko
Y
Kawasaki
Hiroyuki
H
Isogai
Rieko
R
Shimizu
Hiroshi
H
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*
C059834:ITGB4 protein, human; D039663:Integrin beta4