A Chinese family with lipoid proteinosis resulting from a homozygous missense mutation in the extracellular matrix protein 1 gene.
Wang
X P
XP
Huo
J
J
Liu
Y
Y
Wang
W J
WJ
Xu
Q Q
QQ
Ma
J H
JH
An
J G
JG
Wang
J M
JM
Xiao
S X
SX
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