Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova.

@article{Gabelli1996HomozygousFH,
  title={Homozygous familial hypobetalipoproteinemia. Increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87Padova.},
  author={Carlo Gabelli and Claudio Bilato and Scipione Martini and G E Tennyson and Loren A. Zech and Alberto Corsini and Massimo Albanese and Hollis B Brewer and Gaetano Crepaldi and Giovannella Baggio},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  year={1996},
  volume={16 9},
  pages={1189-96}
}
Mutations on the apolipoprotein (apo) B gene that interfere with the full-length translation of the apoB molecule are associated with familial hypobetalipoproteinemia (FHBL), a disease characterized by the reduction of plasma apoB and LDL cholesterol. In this report, we describe an FHBL kindred carrying a unique truncated apoB form, apoB-87Padova. Sequence analysis of amplified genomic DNA identified a single G deletion at nucleotide 12032, which shifts the translation reading frame and causes… CONTINUE READING