Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
Horev
Liran
L
Wollina
Dr Uwe
DU
Potikha
Tamara
T
Hafner
Ariela
A
Ingber
Arieh
A
Liu
Lu
L
McGrath
John A
JA
Zlotogorski
Abraham
A
D000328:Adult; D019943:Amino Acid Substitution; D001706:Biopsy; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017384:Sequence Deletion; D012867:Skin / Q000473:pathology
D018388:Codon, Terminator; C490607:ECM1 protein, human; D016326:Extracellular Matrix Proteins