Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene (Q35197117)

7 August 2017

title

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene (English)

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7 August 2017

Chun K

1

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7 August 2017

MacKay N

series ordinal

2

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7 August 2017

Petrova-Benedict R

series ordinal

3

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7 August 2017

Robinson BH

series ordinal

4

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7 August 2017

language of work or name

English

0 references

publication date

1 August 1991

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

49

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7 August 2017

issue

2

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7 August 2017

page(s)

414-420

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Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

7 August 2017

cites work

1 reference

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Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation

13 July 2018

1 reference

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Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase

13 July 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

13 July 2018

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The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes

13 July 2018

1 reference

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Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

13 July 2018

1 reference

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Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme

13 July 2018

1 reference

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The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA

13 July 2018

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Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease

13 July 2018

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A common structural motif in thiamin pyrophosphate-binding enzymes

13 July 2018

1 reference

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Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit

13 July 2018

1 reference

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Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683296

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

13 July 2018

1 reference

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Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift

13 July 2018

1 reference

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

13 July 2018

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Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene

13 July 2018

1 reference

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Isolation, characterization and chromosomal localization of cDNA clones for the E1beta subunit of the pyruvate dehydrogenase complex

13 July 2018

1 reference

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Regulation of pyruvate oxidation and the conservation of glucose

13 July 2018

1 reference

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DNA sequencing with chain-terminating inhibitors

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683296

The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis

13 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1907799

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1683296

1 reference

7 August 2017

1 reference