(Q71602186)

English

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes

scientific article published on 01 January 1993

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504969%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504969%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

based on heuristic

inferred from title

cystic fibrosis

1 reference

based on heuristic

inferred from title

9

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19 October 2019

author name string

Gasparini P

1

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Europe PubMed Central

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19 October 2019

Marigo C

2

1 reference

Europe PubMed Central

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19 October 2019

Bisceglia G

3

1 reference

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19 October 2019

Nicolis E

4

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19 October 2019

Zelante L

5

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19 October 2019

Bombieri C

6

1 reference

Europe PubMed Central

PubMed publication ID

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19 October 2019

Borgo G

7

1 reference

Europe PubMed Central

PubMed publication ID

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19 October 2019

Pignatti PF

8

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19 October 2019

publication date

1 January 1993

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19 October 2019

1 reference

Europe PubMed Central

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19 October 2019

2

1 reference

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19 October 2019

5

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19 October 2019

389-394

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PubMed publication ID

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19 October 2019

Pancreatic function and gene deletion F508 in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation Analysis in Cystic Fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of 14 cystic fibrosis mutations in five South European populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Development of a screening system for cystic fibrosis: meconium or blood spot trypsin assay or both?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380020511

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380020511

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504969%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504969%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

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