Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site-Reference-Cited by-同舟云学术

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Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site

Published:2016-10-10 Issue:5 Volume:14 Page:4906-4910
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:en
Short-container-title:

Author:

Otsuka Hiroki,Sasai Hideo,Nakama Mina,Aoyama Yuka,Abdelkreem Elsayed,Ohnishi Hidenori,Konstantopoulou Vassiliki,Sass Jörn Oliver,Fukao Toshiyuki

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Cited by 18 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. From mitochondria to tumor suppression: ACAT1's crucial role in gastric cancer;Frontiers in Immunology;2024-08-23

2. Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature;Clinical Diabetes and Endocrinology;2024-06-10

3. An Identification of Functional Genetic Variants in B4GALNT2 Gene and Their Association with Growth Traits in Goats;Genes;2024-03-03

4. Intrinsic Regulatory Role of RNA Structural Arrangement in Alternative Splicing Control;International Journal of Molecular Sciences;2020-07-21

5. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways;Orphanet Journal of Rare Diseases;2020-04-28

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