(Q57263960)

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Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-?F508 mutations in German cystic fibrosis patients

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1370807%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Single-strand conformation polymorphism (SSCP) analysis of exon 11 of the CFTR gene reliably detects more than one third of non-delta F508 mutations in German cystic fibrosis patients (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1370807%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

cystic fibrosis

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David N. Cooper

4

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14 September 2019

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J Plieth

1

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14 September 2019

F Rininsland

2

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14 September 2019

M Schlösser

3

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14 September 2019

J Reiss

5

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14 September 2019

publication date

1 January 1992

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14 September 2019

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Europe PubMed Central

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14 September 2019

88

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14 September 2019

3

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14 September 2019

283-287

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14 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00197260

0 references

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of single base substitutions in total genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign missense variations in the cystic fibrosis gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

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/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

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/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

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/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A frame-shift mutation in the cystic fibrosis gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

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/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

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/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1370807

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/1370807

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00197260

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1370807%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1370807%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

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