(Q67468876)

English

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

scientific article published on 01 January 1992

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scholarly article

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13 September 2019

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes (English)

1 reference

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13 September 2019

Marcella Devoto

10

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13 September 2019

author name string

Cremonesi L

1

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13 September 2019

Ferrari M

2

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13 September 2019

Belloni E

3

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13 September 2019

Magnani C

4

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13 September 2019

Seia M

5

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13 September 2019

Ronchetto P

6

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13 September 2019

Rady M

7

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13 September 2019

Russo MP

8

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13 September 2019

Romeo G

9

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13 September 2019

publication date

1 January 1992

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13 September 2019

1 reference

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13 September 2019

1

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13 September 2019

314-319

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13 September 2019

4

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13 September 2019

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

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/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Probing the basic defect in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

A catalogue of splice junction sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence-Determined DNA Separations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010409

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380010409

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284538%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284538%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

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