(Q73258678)

English

Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency

scientific article published on 01 December 2000

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Europe PubMed Central

PubMed ID

11102541

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

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2 November 2019

title

Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency (English)

1 reference

stated in

Europe PubMed Central

PubMed ID

11102541

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

main subject

Pyruvate dehydrogenase E1-alpha deficiency

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author name string

Cardozo AK

series ordinal

1

1 reference

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Europe PubMed Central

PubMed ID

11102541

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

De Meirleir L

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed ID

11102541

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

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2 November 2019

Liebaers I

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3

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Europe PubMed Central

PubMed ID

11102541

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

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2 November 2019

Lissens W

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4

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Europe PubMed Central

PubMed ID

11102541

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

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2 November 2019

publication date

1 December 2000

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Europe PubMed Central

PubMed ID

11102541

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

Europe PubMed Central

PubMed ID

11102541

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

volume

48

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Europe PubMed Central

PubMed ID

11102541

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

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2 November 2019

page(s)

748-753

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Europe PubMed Central

PubMed ID

11102541

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2 November 2019

issue

6

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Europe PubMed Central

PubMed ID

11102541

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11102541%20AND%20SRC:MED&resulttype=core&format=json

retrieved

2 November 2019

exact match

https://scigraph.springernature.com/pub.10.1203/00006450-200012000-00008

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(Q73258678)

Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency

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