(Q72822950)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967473%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967473%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

H Awata

1

1 reference

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29 October 2019

F Endo

2

1 reference

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29 October 2019

A Tanoue

3

1 reference

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29 October 2019

A Kitano

4

1 reference

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29 October 2019

I Matsuda

5

1 reference

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29 October 2019

publication date

1 January 1994

1 reference

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Journal of Inherited Metabolic Disease

29 October 2019

published in

1 reference

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29 October 2019

volume

17

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29 October 2019

issue

2

1 reference

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29 October 2019

page(s)

189-195

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00711616

29 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The 2-oxo acid dehydrogenase complexes: recent advances

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia

1 reference

12 December 2020

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

1 reference

12 December 2020

Molecular biology and biochemistry of pyruvate dehydrogenase complexes.

1 reference

12 December 2020

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

1 reference

12 December 2020

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

1 reference

12 December 2020

A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00711616

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7967473%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

1 reference