A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa.
Ren
X
X
Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, and Department of Dermatology, Union Hospital, Hubei, China.
Liu
J Y
JY
Zhai
L Y
LY
Yao
Q
Q
Dai
X
X
Cai
Z
Z
Liu
P
P
Sun
K
K
Huang
C
C
Wang
Q K
QK
Liu
M
M
D000293:Adolescent; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
D024143:Collagen Type VII