(Q74615554)

English

Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring

scientific article published on 01 September 2002

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

asymptomatic transmission

1 reference

based on heuristic

inferred from title

vertical transmission

1 reference

based on heuristic

inferred from title

severe congenital neutropenia

1 reference

based on heuristic

inferred from title

author name string

Kathleen F Benson

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Marshall Horwitz

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

0 references

publication date

1 September 2002

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

British Journal of Haematology

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

118

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

923; author reply 923-4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03631_3.X

21 January 2018

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03631_3.X

21 January 2018

Somatic mosaicism in hemophilia A: a fairly common event.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03631_3.X

21 January 2018

Identifiers

10.1046/J.1365-2141.2002.03631_3.X

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12181069%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q74615554&oldid=1779085857"