(Q28244813)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

Jeremy Schwartzentruber

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jordan Orange

4

1 reference

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9 February 2020

7

Jacek Majewski

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

David Watkins

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jaya Ganesh

3

1 reference

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9 February 2020

Bernard S Kaplan

5

1 reference

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9 February 2020

Laura Dempsey Nunez

6

1 reference

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9 February 2020

David S Rosenblatt

8

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9 February 2020

language of work or name

English

0 references

publication date

3 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

9 February 2020

published in

1 reference

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9 February 2020

volume

48

1 reference

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9 February 2020

issue

9

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9 February 2020

page(s)

590-592

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

10.1136/JMEDGENET-2011-100286

9 February 2020

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21813566%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference