(Q41396233)

English

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 beta-ketothiolase deficiency

scientific article published on January 1995

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

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 beta-ketothiolase deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

author name string

Fukao T

1

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

Song XQ

2

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

Yamaguchi S

3

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

Orii T

4

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

Wanders RJ

5

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

Poll-The BT

6

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

Hashimoto T

7

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

publication date

1 January 1995

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

94-96

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380050113

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380050113

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 September 2017

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