(Q81273645)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16189704%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16189704%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

11

Charles M Strom

1 reference

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7 January 2020

author name string

Matthew J McGinniss

1

1 reference

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7 January 2020

Christina Chen

2

1 reference

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7 January 2020

Joy B Redman

3

1 reference

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7 January 2020

Arlene Buller

4

1 reference

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7 January 2020

Franklin Quan

5

1 reference

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7 January 2020

Mei Peng

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16189704%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Robert Giusti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16189704%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Feras M Hantash

8

1 reference

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7 January 2020

Donghui Huang

9

1 reference

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7 January 2020

Weimin Sun

10

1 reference

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7 January 2020

publication date

28 September 2005

1 reference

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7 January 2020

1 reference

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7 January 2020

volume

118

1 reference

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7 January 2020

page(s)

331-338

1 reference

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7 January 2020

issue

3-4

1 reference

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https://scigraph.springernature.com/pub.10.1007/s00439-005-0065-1

7 January 2020

exact match

0 references

cites work

Frequency of large CFTR gene rearrangements in Italian CF patients.

1 reference

12 December 2020

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

1 reference

12 December 2020

Nonclassic cystic fibrosis and CFTR-related diseases

1 reference

12 December 2020

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

1 reference

12 December 2020

Human non-synonymous SNPs: server and survey

1 reference

12 December 2020

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

1 reference

12 December 2020

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

1 reference

12 December 2020

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

1 reference

12 December 2020

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

1 reference

12 December 2020

Domain-domain associations in cystic fibrosis transmembrane conductance regulator

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

1 reference

12 December 2020

Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis

1 reference

12 December 2020

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

1 reference

12 December 2020