A Chinese family with lipoid proteinosis resulting from a homozygous missense mutation in the extracellular matrix protein 1 gene.
X P
XP
Wang
J
J
Huo
Y
Y
Liu
W J
WJ
Wang
Q Q
QQ
Xu
J H
JH
Ma
J G
JG
An
J M
JM
Wang
S X
SX
Xiao
D000328:Adult; D001483:Base Sequence; D002681:China; D017931:DNA Primers; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
D017931:DNA Primers; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins