(Q33206898)

23 July 2017

Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation (English)

1 reference

matrix-assisted laser desorption/ionization

23 July 2017

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10

Christine M Eng

1 reference

23 July 2017

Inge M Buyse

1

1 reference

23 July 2017

Sarah E McCarthy

2

1 reference

23 July 2017

Paul Lurix

3

1 reference

23 July 2017

Robert P Pace

4

1 reference

23 July 2017

David Vo

5

1 reference

23 July 2017

George A Bartlett

6

1 reference

23 July 2017

Eric S Schmitt

7

1 reference

23 July 2017

Patricia A Ward

8

1 reference

23 July 2017

Christopher Oermann

9

1 reference

23 July 2017

Benjamin B Roa

11

1 reference

23 July 2017

language of work or name

English

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publication date

1 September 2004

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23 July 2017

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23 July 2017

6

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23 July 2017

5

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23 July 2017

426-430

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https://scigraph.springernature.com/pub.10.1097/01.gim.0000139508.61701.bd

23 July 2017

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cites work

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

Standards and guidelines for CFTR mutation testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

Improved detection of CFTR mutations in Southern California Hispanic CF patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

Disease-Associated Mutations in Cytoplasmic Loops 1 and 2 of Cystic Fibrosis Transmembrane Conductance Regulator Impede Processing or Opening of the Channel†

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000139508.61701.BD

10.1097/01.GIM.0000139508.61701.BD

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

23 July 2017

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1 reference