Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift (Q24679244)

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30 September 2019

title

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

1 reference

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30 September 2019

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Endo H

1

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30 September 2019

Hasegawa K

2

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30 September 2019

Narisawa K

3

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30 September 2019

Tada K

4

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30 September 2019

Kagawa Y

5

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30 September 2019

Ohta S

6

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30 September 2019

language of work or name

English

0 references

publication date

1 March 1989

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American Journal of Human Genetics

30 September 2019

published in

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30 September 2019

volume

44

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30 September 2019

page(s)

358-364

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30 September 2019

issue

3

1 reference

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

30 September 2019

cites work

1 reference

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DNA sequencing with chain-terminating inhibitors

7 April 2017

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

7 April 2017

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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

7 April 2017

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A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells

7 April 2017

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Sizing and mapping of early adenovirus mRNAs by gel electrophoresis of S1 endonuclease-digested hybrids

7 April 2017

1 reference

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Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

7 April 2017

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Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

28 September 2017

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Deficiency of the pyruvate dehydrogenase component in pyruvate dehydrogenase complex-deficient human fibroblasts. Immunological identification

28 September 2017

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Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex

28 September 2017

1 reference

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Disorders of pyruvate metabolism

28 September 2017

1 reference

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Cyclosporin A promotes spontaneous outgrowth in vitro of Epstein–Barr virus-induced B-cell lines

28 September 2017

1 reference

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

30 May 2018

1 reference

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Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

30 May 2018

1 reference

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Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

28 November 2018

1 reference

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Structure, assembly and function of mammalian alpha-keto acid dehydrogenase complexes

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2537010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Biochemical mechanisms of biotin and thiamin action and relationships to genetic disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2537010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of sickle cell anaemia and thalassaemias

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2537010

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

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30 September 2019

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