Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B-Reference-Cited by-同舟云学术

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Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B

Published:2016-01 Issue: Volume:452 Page:185-190
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Yilmaz Berna Seker,Mungan Neslihan Onenli,Di Leo Enza,Magnolo Lucia,Artuso Lucia,Bernardis Isabella,Tumgor Gokhan,Kor Deniz,Tarugi Patrizia

Funder

MIUR (Italian Ministry of University and Research)

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference21 articles.

1. Familial hypobetalipoproteinemia: genetics and metabolism;Schonfeld;Cell. Mol. Life Sci.,2005

2. Molecular diagnosis of hypobetalipoproteinemia: an ENID review;Tarugi;Atherosclerosis,2007

3. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum;Tarugi;Adv. Clin. Chem.,2011

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

5. Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia;Burnett;J. Biol. Chem.,2007

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1;Journal of Atherosclerosis and Thrombosis;2024-07-01

2. Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine;Journal of Clinical Lipidology;2023-11

3. Primär genetische Dyslipoproteinämien und Atheroskleroserisiko;Pädiatrische Fettstoffwechselstörungen und Atheroskleroserisiko – kompakt;2022

4. Clinical considerations of abetalipoproteinemia: literature review;ARCH MED;2020

5. In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia;Journal of Clinical Lipidology;2019-11

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