Novel mutation (c.G1124A) in exon 9 of the APOB gene causes aberrant splicing and familial hypobetalipoproteinemia.
Homer
Vivienne M
VM
George
Peter M
PM
D001055:Apolipoproteins B / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019154:Protein Splicing
D001055:Apolipoproteins B