Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations (Q71686481)

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scientific article published on 01 April 1995

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English	Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations	scientific article published on 01 April 1995

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scholarly article

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20 October 2019

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations (English)

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20 October 2019

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Luigi Bisceglia

2

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20 October 2019

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20 October 2019

author name string

A Bonizzato

1

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20 October 2019

C Marigo

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20 October 2019

E Nicolis

4

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20 October 2019

C Bombieri

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20 October 2019

C Castellani

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20 October 2019

G Borgo

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20 October 2019

L Zelante

8

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20 October 2019

G Mastella

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20 October 2019

publication date

1 April 1995

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20 October 2019

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20 October 2019

95

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20 October 2019

4

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20 October 2019

397-402

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20 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00208963

0 references

Prevalence of cystic fibrosis mutations in the Grampian region of Scotland

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic determination of exocrine pancreatic function in cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computer methods to locate signals in nucleic acid sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A HinfI polymorphism in the cystic fibrosis gene CFTR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

https://pubmed.ncbi.nlm.nih.gov/7535742

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00208963

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7535742%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:7535742%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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