(Q67525717)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1362557%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1362557%20AND%20SRC:MED&resulttype=core&format=json

restriction fragment length polymorphism

14 September 2019

main subject

1 reference

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18 September 2022

author name string

T. Kuwahara

1

1 reference

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18 September 2022

T. Fukao

2

1 reference

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18 September 2022

M. Kano

3

1 reference

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18 September 2022

S. Yamaguchi

4

1 reference

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18 September 2022

T. Orii

5

1 reference

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18 September 2022

T. Hashimoto

6

1 reference

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18 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1362557

18 September 2022

publication date

1 November 1992

1 reference

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14 September 2019

1 reference

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14 September 2019

volume

90

1 reference

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14 September 2019

page(s)

208-210

1 reference

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14 September 2019

issue

3

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00220063

14 September 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

A "new" disorder of isoleucine catabolism

1 reference

12 December 2020

Isolation of high-molecular-weight DNA from mammalian cells.

1 reference

12 December 2020

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

1 reference

12 December 2020

Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria

1 reference

12 December 2020

Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00220063

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1362557%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 September 2019

0 references

1 reference