(Q38436027)

English

Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening

scientific article published on September 2006

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scholarly article

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Europe PubMed Central

3 September 2017

Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening (English)

1 reference

Europe PubMed Central

3 September 2017

cystic fibrosis

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transmembrane protein

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author name string

Anja Kammesheidt

1

1 reference

Europe PubMed Central

3 September 2017

Martin Kharrazi

2

1 reference

Europe PubMed Central

3 September 2017

Steve Graham

3

1 reference

Europe PubMed Central

3 September 2017

Suzanne Young

4

1 reference

Europe PubMed Central

3 September 2017

Michelle Pearl

5

1 reference

Europe PubMed Central

3 September 2017

Charles Dunlop

6

1 reference

Europe PubMed Central

3 September 2017

Steven Keiles

7

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Europe PubMed Central

3 September 2017

language of work or name

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publication date

1 September 2006

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Europe PubMed Central

3 September 2017

Genetics in Medicine

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Europe PubMed Central

3 September 2017

8

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Europe PubMed Central

3 September 2017

9

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Europe PubMed Central

3 September 2017

557-562

1 reference

Europe PubMed Central

3 September 2017

https://scigraph.springernature.com/pub.10.1097/01.gim.0000237793.19868.97

0 references

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Demographics of the UK cystic fibrosis population: implications for neonatal screening

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Improved detection of CFTR mutations in southern California Hispanic CF patients

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online.

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Novel CFTR mutations in black cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Complications associated with symptomatic diagnosis in infants with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Delayed diagnosis of cystic fibrosis and the family perspective

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237793.19868.97

21 January 2018

Identifiers

10.1097/01.GIM.0000237793.19868.97

1 reference

Europe PubMed Central

3 September 2017

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0 references

1 reference

Europe PubMed Central

3 September 2017

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