New compound heterozygous mutations in a Chinese family with lipoid proteinosis.
Wang
C Y
CY
Shandong Provincial Institute of Dermatology and Venereology, 57 Jiyan Road, Jinan, China.
Zhang
P Z
PZ
Zhang
F R
FR
Liu
J
J
Tian
H Q
HQ
Yu
L
L
D000328:Adult; D001483:Base Sequence; D018389:Codon, Nonsense; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense
D018389:Codon, Nonsense; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins