SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
Annesi
G
G
Aguglia
U
U
Tarantino
P
P
Annesi
F
F
De Marco
E V
EV
Civitelli
D
D
Torroni
A
A
Quattrone
A
A
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
D002914:Chylomicrons; D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human; D014810:Vitamin E; C513282:SAR1B protein, human; D020559:Monomeric GTP-Binding Proteins