(Q33813887)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

0 references

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Federica Incani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Maria Cristina Rosatelli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Valeria Faa'

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Lucy Costantino

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Antonio Cao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

publication date

26 February 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Molecular Diagnostics

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

380-383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Cystic fibrosis-associated mutations at arginine 347 alter the pore architecture of CFTR. Evidence for disruption of a salt bridge.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

How neutral are synonymous codon mutations?

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860476

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

30 October 2018

1 reference

12 December 2020

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

12 December 2020

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

12 December 2020

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

12 December 2020

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

1 reference

12 December 2020

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens

1 reference

12 December 2020

CFTR gene mutations in adults with disseminated bronchiectasis

1 reference

12 December 2020

10.2353/JMOLDX.2010.090126

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20190016%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference