Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.

@article{Yang1999AbetalipoproteinemiaCB,
  title={Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.},
  author={Xiao ping Yang and Akihiro Inazu and Ken Yagi and Kouji Kajinami and Jun Koizumi and Hiroshi Hitachi Mabuchi},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  year={1999},
  volume={19 8},
  pages={
          1950-5
        }
}
Uniparental disomy (UPD), a rare inheritance of 2 copies of a single chromosome homolog or a region of a chromosome from one parent, can result in various autosomal recessive diseases. Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency. In this study, we describe a patient with ABL inherited as a homozygous intron 9 splice acceptor G(-1)-to-A mutation of the transfer protein… CONTINUE READING
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