(Q40544589)

English

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

scientific article published on January 1, 1992

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scholarly article

1 reference

Europe PubMed Central

21 September 2017

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease (English)

1 reference

Europe PubMed Central

21 September 2017

cystic fibrosis

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author name string

T. Shoshani

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

A. Augarten

2

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

E. Gazit

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

N. Bashan

4

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

Y. Yahav

5

1 reference

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19 September 2022

Y. Rivlin

6

1 reference

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19 September 2022

A. Tal

7

1 reference

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19 September 2022

H. Seret

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

L. Yaar

9

1 reference

Europe PubMed Central

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19 September 2022

E. Kerem

10

1 reference

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19 September 2022

language of work or name

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publication date

1 January 1992

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Europe PubMed Central

21 September 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1370365/?tool=EBI

online access status

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19 September 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1370365/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

https://europepmc.org/articles/PMC1682509

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

https://europepmc.org/articles/PMC1682509?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1370365

19 September 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

21 September 2017

50

1 reference

Europe PubMed Central

21 September 2017

1

1 reference

Europe PubMed Central

21 September 2017

222-228

1 reference

Europe PubMed Central

21 September 2017

Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Nonsense mutation causing steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Premature translation termination mediates triosephosphate isomerase mRNA degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Novel metabolism of several beta zero-thalassemic beta-globin mRNAs in the erythroid tissues of transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

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=1682509

22 September 2017

DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Structural hemoglobin variants that produce the phenotype of thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Two frameshift mutations in the cystic fibrosis gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

Benign missense variations in the cystic fibrosis gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

22 September 2017

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=1682509

22 September 2017

Age-related alterations of immunoreactive pancreatic cationic trypsinogen in sera from cystic fibrosis patients with and without pancreatic insufficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

Rapid nonradioactive detection of the major cystic fibrosis mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

A deletion of two nucleotides in exon 10 of the CFTR gene in a Soviet family with cystic fibrosis causing early infant death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

Identification of mutations in exons 1 through 8 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=1682509

17 June 2018

Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

Generation of cAMP-Activated Chloride Currents by Expression of CFTR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

A frame-shift mutation in the cystic fibrosis gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

17 June 2018

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682509

20 August 2018

Linked marker haplotypes and the delta F508 mutation in adults with mild pulmonary disease and cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of mutations causing steroid 21-hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

21 September 2017

1 reference

Europe PubMed Central

21 September 2017

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