. . . . . . . "[Here we report three patients with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.Two of them (probands F.A. and P.E.) had clinical and biochemical phenotype consistent with ABL.Proband F.A. was homozygous for a minute deletion/insertion (c.1228delCCCinsT) in exon 9 of MTP gene predicted to cause a truncated MTP protein of 412 amino acids.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:14:49+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .