(Q83980878)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16770810%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity (English)

1 reference

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29 January 2020

author name string

Jessie M Cameron

1

1 reference

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29 January 2020

Valeriy Levandovskiy

2

1 reference

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29 January 2020

Neviana Mackay

3

1 reference

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29 January 2020

Julian Raiman

4

1 reference

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29 January 2020

Deborah L Renaud

5

1 reference

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29 January 2020

Joe T R Clarke

6

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29 January 2020

Annette Feigenbaum

7

1 reference

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29 January 2020

Orly Elpeleg

8

1 reference

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29 January 2020

Brian H Robinson

9

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29 January 2020

publication date

1 July 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16770810%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

29 January 2020

published in

1 reference

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29 January 2020

volume

140

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29 January 2020

issue

14

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29 January 2020

page(s)

1542-1552

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29 January 2020

Identifiers

DOI

10.1002/AJMG.A.31313

1 reference

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29 January 2020

1 reference