The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn.
Hashikawa
Keiko
K
Hamada
Takahiro
T
Ishii
Norito
N
Fukuda
Shunpei
S
Kuroki
Rie
R
Nakama
Takekuni
T
Yasumoto
Shinichiro
S
Tamai
Katsuto
K
Nakano
Hajime
H
Sawamura
Daisuke
D
Hashimoto
Takashi
T
D024143:Collagen Type VII / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission; D009154:Mutation / Q000235:genetics; D012867:Skin / Q000473:pathology; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics* / Q000473:pathology
D024143:Collagen Type VII