(Q71700314)

English

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent

scientific article published on 01 April 1995

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

cystic fibrosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Luigi Bisceglia

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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Marigo C

1

1 reference

Europe PubMed Central

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20 October 2019

Bombieri C

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Zelante L

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Gasparini P

5

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Europe PubMed Central

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20 October 2019

Pignatti PF

6

1 reference

Europe PubMed Central

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20 October 2019

publication date

1 April 1995

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Molecular and Cellular Probes

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

9

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20 October 2019

2

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Europe PubMed Central

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20 October 2019

139-141

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

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/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe splice site mutation preceding exon 9 of the CFTR gene

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Computer methods to locate signals in nucleic acid sequences

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2895%2980039-5

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0890-8508(95)80039-5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 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:7541511%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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