Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia
- 30 June 2005
- journal article
- case report
- Published by Elsevier in Atherosclerosis
- Vol. 180 (2) , 311-318
- https://doi.org/10.1016/j.atherosclerosis.2004.12.004
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Apolipoprotein E polymorphism in health and diseasePublished by Elsevier ,2004
- The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-CanadiansMolecular Genetics and Metabolism, 2003
- Familial hypobetalipoproteinemia: a reviewJournal of Lipid Research, 2003
- Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disordersNature Genetics, 2003
- A Novel Nontruncating APOB Gene Mutation, R463W, Causes Familial HypobetalipoproteinemiaJournal of Biological Chemistry, 2003
- Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemiaClinical Genetics, 2003
- A Novel Abetalipoproteinemia GenotypeJournal of Biological Chemistry, 1996
- A 30-Amino Acid Truncation of the Microsomal Triglyceride Transfer Protein Large Subunit Disrupts Its Interaction with Protein Disulfide-isomerase and Causes AbetalipoproteinemiaPublished by Elsevier ,1995
- 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