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
M
Tamai
K
K
Shimizu
H
H
Owaribe
K
K
Nakama
T
T
Hashimoto
T
T
McGrath
J A
JA
D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D003896:Desmosomes / Q000737:chemistry*; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D005455:Fluorescent Antibody Technique; D006801:Humans; D039663:Integrin beta4; D008297:Male; D020125:Mutation, Missense; D011706:Pyloric Antrum / Q000002:abnormalities*
D015703:Antigens, CD; D039663:Integrin beta4