Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia-Reference-Cited by-同舟云学术

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

Published:2005-06 Issue:2 Volume:180 Page:311-318
ISSN:0021-9150
Container-title:Atherosclerosis
language:en
Short-container-title:Atherosclerosis

Author:

Leo Enza Di,Lancellotti Sandra,Penacchioni Junia Y.,Cefalù Angelo B.,Averna Maurizio,Pisciotta L.,Bertolini Stefano,Calandra Sebastiano,Gabelli Carlo,Tarugi Patrizia

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference21 articles.

1. Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins;Kane,2001

2. Familial hypobetalipoproteinemia: a review;Schonfeld;J Lipid Res,2003

3. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia;Burnett;J Biol Chem,2003

4. Microsomal triglyceride transfer protein and its role in apo B-lipoprotein assembly;Hussain;J Lipid Res,2003

5. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia;Sharp;Nature,1993

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1. A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases;Journal of Clinical Laboratory Analysis;2020-11-30

2. A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein;PLOS Genetics;2020-08-06

3. Genomic Tools Used in Molecular Clinical Aging Research;Clinical Genetics and Genomics of Aging;2020

4. A missense mutation dissociates triglyceride and phospholipid transfer activities in zebrafish and human microsomal triglyceride transfer protein;2019-07-13

5. Novel mutations of SAR1B gene in four children with chylomicron retention disease;Journal of Clinical Lipidology;2019-07