(Q34539932)

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

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Europe PubMed Central

PubMed publication ID

2 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

cystic fibrosis

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author name string

Abeliovich D

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Lavon IP

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Lerer I

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Cohen T

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Springer C

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Avital A

6

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Europe PubMed Central

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2 August 2017

Cutting GR

7

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2 August 2017

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publication date

1 November 1992

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Europe PubMed Central

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2 August 2017

American Journal of Human Genetics

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Europe PubMed Central

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2 August 2017

51

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Europe PubMed Central

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2 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

951-956

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 2018

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=1682830

7 July 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=1682830

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 2018

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=1682830

7 July 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=1682830

7 July 2018

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=1682830

7 July 2018

Biochemical and molecular genetics of cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 2018

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 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=1682830

7 July 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=1682830

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 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=1682830

7 July 2018

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 2018

Cystic fibrosis mutations delta F508 and G542X in Jewish patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 2018

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 2018

Cystic fibrosis in Israel: clinical and genetic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682830

7 July 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=1682830

27 October 2018

Carrier screening for cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complementary endeavours

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methods for analysis of multiple cystic fibrosis mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of 14 cystic fibrosis mutations in five South European populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1384328

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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