Article
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
Human mutation - 1 Mar 2000
Wang J, Hegele R A
Abstract excerpt
Abetalipoproteinemia (ABL) is an extremely rare autosomal recessive disorder, which is characterized by defective assembly and secretion of plasma apolipoprotein (apo) B-containing lipoproteins. ABL results from mutations in the gene encoding the microsomal triglyceride transfer protein (MTP). We sequenced the MTP gene in six Canadian subjects with ABL, of whom four were found to be simple homozygotes and two...
Topics
- Abetalipoproteinemia
- Adolescent
- Adult
- Age of Onset
- Canada
- Carrier Proteins
- Child
- Cholesterol
- Chromosomes, Human, Pair 4
- Female
- Humans
- Male
- Mutation
- Severity of Illness Index