Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia
Open Access
- 1 August 2000
- journal article
- case report
- Published by Elsevier in Journal of Lipid Research
- Vol. 41 (8) , 1199-1204
- https://doi.org/10.1016/s0022-2275(20)33426-x
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteinsJournal of Molecular Biology, 1999
- A Novel Abetalipoproteinemia GenotypeJournal of Biological Chemistry, 1996
- Microsomal Triglyceride Transfer ProteinJournal of Biological Chemistry, 1995
- Secretion of apolipoprotein B-containing lipoproteins from HeLa cells is dependent on expression of the microsomal triglyceride transfer protein and is regulated by lipid availability.Proceedings of the National Academy of Sciences, 1994
- Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer proteinHuman Molecular Genetics, 1993
- Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemiaNature, 1993
- Absence of Microsomal Triglyceride Transfer Protein in Individuals with AbetalipoproteinemiaScience, 1992
- The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequencesHuman Genetics, 1992
- A general method ofin vitropreparation and specific mutagenesis of DNA fragments: study of protein and DNA interactionsNucleic Acids Research, 1988
- AbetalipoproteinemiaArchives of Neurology, 1980