(Q71706914)

English

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

scientific article published on 01 September 1995

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

cystic fibrosis

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Jan Traeger-Synodinos

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

E Kanavakis

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

T Antoniadi

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

S Doudounakis

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

G Adam

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

N Matsaniotis

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

C Kattamis

8

1 reference

Europe PubMed Central

PubMed publication ID

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20 October 2019

publication date

1 September 1995

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Europe PubMed Central

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20 October 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

96

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

364-366

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Worldwide survey of the delta F508 mutation--report from the cystic fibrosis genetic analysis consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the cystic fibrosis genetic analysis consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/7544320

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00210426

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7544320%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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