Description of two different patients with abetalipoproteinemia: synthesis of a normal-sized apolipoprotein B-48 in intestinal organ culture.
ME Bouma, I Beucler, M Pessah, C Heinzmann… - Journal of Lipid …, 1990 - ASBMB
We describe here two patients, MP and SL, with recessive abetalipoproteinemia. Analysis of
restriction fragments of DNA from both patients using cDNA probes spanning the entire
apolipoprotein B gene revealed no major insertions or deletions. Further, as defined by
restriction fragment length polymorphism, abetalipoproteinemia, in these patients, did not
appear associated with particular alleles of apolipoprotein B. Northern and dot blot analysis
of intestinal mRNA of one patient (MP) revealed a normal-sized apolipoprotein B mRNA …
restriction fragments of DNA from both patients using cDNA probes spanning the entire
apolipoprotein B gene revealed no major insertions or deletions. Further, as defined by
restriction fragment length polymorphism, abetalipoproteinemia, in these patients, did not
appear associated with particular alleles of apolipoprotein B. Northern and dot blot analysis
of intestinal mRNA of one patient (MP) revealed a normal-sized apolipoprotein B mRNA …