Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations (Q40004227)

16 September 2017

title

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations (English)

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16 September 2017

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Joris M Van Montfrans

1

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12 June 2020

Esther A R Hartman

2

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12 June 2020

Kees P J Braun

3

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12 June 2020

Elisabeth A Hak

5

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12 June 2020

Paul J Nederkoorn

6

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12 June 2020

Willeke F Westendorp

7

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12 June 2020

Robbert G M Bredius

8

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12 June 2020

Wouter J W Kollen

9

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12 June 2020

Elisabeth H Schölvinck

10

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12 June 2020

G Elizabeth Legger

11

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12 June 2020

Isabelle Meyts

12

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12 June 2020

Adrian Liston

13

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12 June 2020

Klaske D Lichtenbelt

14

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12 June 2020

Jacques C Giltay

15

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12 June 2020

Gijs Van Haaften

16

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12 June 2020

Gaby M De Vries Simons

17

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12 June 2020

Helen Leavis

18

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12 June 2020

Cornelis J G Sanders

19

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12 June 2020

Marc B Bierings

20

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12 June 2020

Marielle E Van Gijn

22

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12 June 2020

publication date

10 February 2016

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16 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

55

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12 June 2020

issue

5

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12 June 2020

page(s)

902-910

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Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

12 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Early-onset stroke and vasculopathy associated with mutations in ADA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Mutant ADA2 in vasculopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Mutations in CECR1 associated with a neutrophil signature in peripheral blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Refined characterization and reference values of the pediatric T- and B-cell compartments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Whole-genome sequence variation, population structure and demographic history of the Dutch population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

Structural basis for the growth factor activity of human adenosine deaminase ADA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKEV439

10.1093/RHEUMATOLOGY/KEV439

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26867732%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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