(Q56923661)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20799324%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome (English)

1 reference

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13 February 2020

1 reference

2

1 reference

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13 February 2020

Maurice van Steensel

3

1 reference

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13 February 2020

Martin Lammens

4

1 reference

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13 February 2020

Gillian I. Rice

5

1 reference

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13 February 2020

author name string

Charlotte A Haaxma

1

1 reference

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13 February 2020

Marcel M Verbeek

6

1 reference

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13 February 2020

Michèl A A P Willemsen

7

1 reference

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13 February 2020

language of work or name

English

0 references

publication date

1 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20799324%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

13 February 2020

published in

1 reference

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13 February 2020

volume

152A

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13 February 2020

issue

10

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13 February 2020

page(s)

2612-2617

1 reference

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Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

13 February 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33620

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.33620

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20799324%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference