title: SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
authors.forename: G
authors.initials: G
authors.lastname: Annesi
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
authors.forename: P
authors.initials: P
authors.lastname: Tarantino
authors.forename: F
authors.initials: F
authors.lastname: Annesi
authors.forename: E V
authors.initials: EV
authors.lastname: De Marco
authors.forename: D
authors.initials: D
authors.lastname: Civitelli
authors.forename: A
authors.initials: A
authors.lastname: Torroni
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D001483:Base Sequence; D002914:Chylomicrons / Q000378:metabolism*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D052476:Hypobetalipoproteinemia, Familial, Apolipoprotein B / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020559:Monomeric GTP-Binding Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D014810:Vitamin E / Q000097:blood
chemical_list: D002914:Chylomicrons; D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human; D014810:Vitamin E; C513282:SAR1B protein, human; D020559:Monomeric GTP-Binding Proteins