An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene.
Chan
I
I
Bingewar
G
G
Patil
K
K
Nayak
C
C
Wadhwa
S L
SL
McGrath
J A
JA
D001483:Base Sequence; D002648:Child; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics*
C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins