Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. (Q40564020)

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17 September 2019

title

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

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17 September 2019

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transmembrane protein

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author name string

Devoto M

1

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17 September 2019

Ronchetto P

2

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17 September 2019

Fanen P

3

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17 September 2019

Orriols JJ

4

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17 September 2019

Romeo G

5

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17 September 2019

Goossens M

6

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17 September 2019

Ferrari M

7

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17 September 2019

Magnani C

8

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17 September 2019

Seia M

9

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17 September 2019

Cremonesi L

10

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17 September 2019

language of work or name

English

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publication date

1 June 1991

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American Journal of Human Genetics

17 September 2019

published in

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17 September 2019

volume

48

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issue

6

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17 September 2019

page(s)

1127-1132

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The cystic fibrosis gene: medical and social implications for heterozygote detection

17 September 2019

cites work

1 reference

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

22 September 2017

1 reference

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

22 September 2017

1 reference

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Identification of the cystic fibrosis gene: chromosome walking and jumping

22 September 2017

1 reference

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Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

Identification of the cystic fibrosis gene: genetic analysis

22 September 2017

1 reference

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

22 September 2017

1 reference

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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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

Benign missense variations in the cystic fibrosis gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

DNA sequencing with chain-terminating inhibitors

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

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

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

A frame-shift mutation in the cystic fibrosis gene.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683105

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

17 June 2018

1 reference

12 December 2020

Carrier screening for cystic fibrosis

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12 December 2020

Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients

1 reference

12 December 2020

A 3' splice site consensus sequence mutation in the cystic fibrosis gene

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1709778%20AND%20SRC:MED&resulttype=core&format=json

17 September 2019

PubMed publication ID

1709778

1 reference