(Q80843376)

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Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

scientific article published on 23 August 2007

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3 January 2020

Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency (English)

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3 January 2020

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Toshiyuki Fukao

1

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3 January 2020

Gaixiu Zhang

2

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3 January 2020

Marie-Odile Rolland

3

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3 January 2020

Marie-Therese Zabot

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3 January 2020

Nathalie Guffon

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3 January 2020

Yusuke Aoki

6

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3 January 2020

Naomi Kondo

7

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3 January 2020

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23 August 2007

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3 January 2020

Molecular Genetics and Metabolism

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3 January 2020

92

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3 January 2020

4

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3 January 2020

375-378

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3 January 2020

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Genome instability in a region of human DNA enriched in Alu repeat sequences

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Alu repeats and human genomic diversity

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Alu repeats and human disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Human genomic deletions mediated by recombination between Alu elements.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.07.007

7 January 2021

Identifiers

10.1016/J.YMGME.2007.07.007

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17719254%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17719254%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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