Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.
Tamai
K
K
Murai
T
T
Mayama
M
M
Kon
A
A
Nomura
K
K
Sawamura
D
D
Hanada
K
K
Hashimoto
I
I
Shimizu
H
H
Masunaga
T
T
Nishikawa
T
T
Mitsuhashi
Y
Y
Ishida-Yamamoto
A
A
Ikeda
S
S
Ogawa
H
H
McGrath
J A
JA
Pulkkinen
L
L
Uitto
J
J
D000328:Adult; D000483:Alleles; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000453:epidemiology / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D009154:Mutation; D017354:Point Mutation; D012720:Severity of Illness Index
D003062:Codon; D003094:Collagen