Next-generation sequencing identified a novel mutation of COL7A1 in a Chinese pedigree of dystrophic epidermolysis bullosa.
Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
S
S
Zheng
Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
X G
XG
Xu
Liaoning Centre for Prenatal Diagnosis, Department of Gynecology & Obstetrics, Shengjing Hospital of China Medical University, Shenyang, China.
Y
Y
Lv
Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
X-H
XH
Gao
Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, China.
H D
HD
Chen
D044466:Asian People; D002681:China; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D024143:Collagen Type VII