Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.-Reference-Cited by-同舟云学术

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Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

Published:1990-12-01 Issue:6 Volume:86 Page:2086-2092
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Fukao T,Yamaguchi S,Kano M,Orii T,Fujiki Y,Osumi T,Hashimoto T

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Cited by 69 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. Metabolites as signalling molecules;Nature Reviews Molecular Cell Biology;2023-01-12

2. Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy;Journal of Pediatric Endocrinology and Metabolism;2022-07-18

3. Obituary: Toshiyuki Fukao (1961-2020), a friend of the Latin American IEM community;Journal of Inborn Errors of Metabolism and Screening;2020

4. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency;Human Mutation;2019-07-03

5. A novel mutation (c.121-13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene;Molecular Medicine Reports;2017-04-04

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