(Q78145073)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

chronic granulomatous disease

11 December 2019

main subject

1 reference

D Noack

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

P G Heyworth

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

J T Curnutte

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

J Rae

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

A R Cross

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

11 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

volume

1454

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

page(s)

270-274

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

Fatal granulomatous disease of childhood. An inborn abnormality of phagocytic function

11 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

Assembly of the phagocyte NADPH oxidase: molecular interaction of oxidase proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

Hematologically important mutations: X-linked chronic granulomatous disease--an update

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

Quantitative nitroblue tetrazolium test in chronic granulomatous disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2899%2900044-7

7 January 2021

10.1016/S0925-4439(99)00044-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10452961%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

1 reference