Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency-Reference-Cited by-同舟云学术

Mitochondrial acetoacetyl-coenzyme a thiolase gene: A Novel 68-bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β-ketothiolase deficiency

Published:1995 Issue:1 Volume:5 Page:94-96
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Fukao Toshiyuki,Song Xiang-Qian,Yamaguchi Seiji,Orii Tadao,Wanders Ronald J. A.,Poll-The Bwee. T.,Hashimoto Takashi

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.

2. A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

3. 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.

4. Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency

5. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

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

2. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency;Journal of Human Genetics;2018-11-05

3. Beta-Ketothiolase Deficiency;Journal of Inborn Errors of Metabolism and Screening;2016-03-30

4. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene;Molecular Genetics and Metabolism;2010-08

5. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency;Molecular Genetics and Metabolism;2010-05