(Q47715744)

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Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

cystic fibrosis

0 references

author name string

Isabelle De Bie

1

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

Ron Agatep

2

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

Patrick Scott

3

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

Andrea Ruchon

4

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

language of work or name

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publication date

24 May 2012

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

14

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

10

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

883-886

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

https://scigraph.springernature.com/pub.10.1038/gim.2012.57

0 references

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

Distribution of CFTR mutations in Saguenay- Lac-Saint-Jean: proposal of a panel of mutations for population screening.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

An animal model for cystic fibrosis made by gene targeting

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

Production of a severe cystic fibrosis mutation in mice by gene targeting

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

Population history and its impact on medical genetics in Quebec

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

Admixed ancestry and stratification of Quebec regional populations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

21 January 2018

Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

7 January 2021

based on heuristic

inferred from DOI database lookup

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada)

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

7 January 2021

based on heuristic

inferred from DOI database lookup

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.57

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/GIM.2012.57

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/22627569

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