(Q41976697)

English

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

scientific article published on March 1995

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scholarly article

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Europe PubMed Central

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20 October 2019

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7534040%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

cystic fibrosis

0 references

Xavier Estivill i Pallejà

9

1 reference

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20 October 2019

1

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20 October 2019

2

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Dörk T

1 reference

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20 October 2019

author name string

Casals T

3

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20 October 2019

Giménez J

4

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20 October 2019

Fonknechten N

5

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20 October 2019

Will K

6

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20 October 2019

Ramos D

7

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20 October 2019

Nunes V

8

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20 October 2019

language of work or name

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publication date

1 March 1995

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20 October 2019

American Journal of Human Genetics

1 reference

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20 October 2019

56

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20 October 2019

623-629

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20 October 2019

3

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20 October 2019

Impact of premature stop codons on mRNA levels in infantile Sandhoff disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

The spectrum of cystic fibrosis mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

5 June 2018

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

18 August 2018

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801150

2 December 2018

A minimal intron length but no specific internal sequence is required for splicing the large rabbit beta-globin intron

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term study of one hundred five patients with cystic fibrosis; studies made over a five- to fourteen-year period

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A native RNA secondary structure controls alternative splice-site selection and generates two human growth hormone isoforms

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

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/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing in the first nucleotide binding fold of CFTR

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

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/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7534040

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7534040%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7534040%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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