(Q40393561)

20 September 2017

title

A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation (English)

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20 September 2017

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1

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20 September 2017

Annelies van Wengen

2

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20 September 2017

Jos A van Geelen

3

1 reference

20 September 2017

Martin de Boer

4

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20 September 2017

Dirk Roos

5

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20 September 2017

Jaap T van Dissel

6

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20 September 2017

publication date

27 March 2009

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Journal of Human Genetics

20 September 2017

published in

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20 September 2017

volume

54

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20 September 2017

issue

6

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20 September 2017

page(s)

313-316

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Phagocyte immunodeficiencies and their infections

20 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Immunodeficiency mutation databases (IDbases).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Chronic granulomatous disease. Report on a national registry of 368 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Pyogenic liver abscess. Changes in etiology, management, and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.24

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/JHG.2009.24

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20 September 2017

1 reference