A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.
Deng
Weiping
W
Chen
Suqin
S
Lu
Chun
C
Zhou
Xiang
X
Hu
Bin
B
Chen
Minghua
M
Lai
Wei
W
Wang
Yiming
Y
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001224:Aspartic Acid; D002681:China; D024143:Collagen Type VII / Q000235:genetics*; D004252:DNA Mutational Analysis; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease; D005998:Glycine; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors; D012720:Severity of Illness Index; D012737:Sex Factors; D012867:Skin / Q000473:pathology*
D024143:Collagen Type VII; D001224:Aspartic Acid; D005998:Glycine