A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.
Suzuki
S
S
Department of Dermatology, Niigata University School of Medicine, Asahimachi-dori, Niigata 951-8510, Japan.
Shimomura
Y
Y
Yamamoto
Y
Y
Kariya
N
N
Shibuya
M
M
Ito
M
M
Fujiwara
H
H
D001483:Base Sequence; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation
D024143:Collagen Type VII