(Q71656273)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7525450%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7525450%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

1

T Dörk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7525450%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

F Mekus

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7525450%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

K Schmidt

3

1 reference

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20 October 2019

J Bosshammer

4

1 reference

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20 October 2019

R Fislage

5

1 reference

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20 October 2019

T Heuer

6

1 reference

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20 October 2019

V Dziadek

7

1 reference

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20 October 2019

T Neumann

8

1 reference

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20 October 2019

N Kälin

9

1 reference

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20 October 2019

U Wulbrand

10

1 reference

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20 October 2019

publication date

1 November 1994

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20 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7525450%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

94

1 reference

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20 October 2019

issue

5

1 reference

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20 October 2019

page(s)

533-542

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https://scigraph.springernature.com/pub.10.1007/bf00211022

20 October 2019

exact match

0 references

cites work

Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis

1 reference

12 December 2020

A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations

1 reference

12 December 2020

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

1 reference

12 December 2020

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

12 December 2020

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

12 December 2020

Correlation between genotype and phenotype in patients with cystic fibrosis

1 reference

12 December 2020

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

12 December 2020

Benign missense variations in the cystic fibrosis gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Phosphorylation of the R domain by cAMP-dependent protein kinase regulates the CFTR chloride channel

1 reference

12 December 2020

Genetic determination of exocrine pancreatic function in cystic fibrosis

1 reference

12 December 2020

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

1 reference

12 December 2020

Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales

1 reference

12 December 2020

The spectrum of cystic fibrosis mutations

1 reference

12 December 2020

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator

1 reference

12 December 2020

Severe splice site mutation preceding exon 9 of the CFTR gene

1 reference

12 December 2020

Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of high-molecular-weight DNA from mammalian cells

1 reference

12 December 2020

Rapid nonradioactive detection of the major cystic fibrosis mutation.

1 reference

12 December 2020

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

1 reference

12 December 2020

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

1 reference

12 December 2020

Nucleoside triphosphates are required to open the CFTR chloride channel.

1 reference

12 December 2020

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

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G

1 reference

12 December 2020

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

1 reference

12 December 2020

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

1 reference

12 December 2020

A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening

1 reference

12 December 2020

The cystic fibrosis gene: medical and social implications for heterozygote detection

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis in 600 French cystic fibrosis patients

1 reference

12 December 2020

Detection of more than 94% cystic fibrosis mutations in a sample of Belgian population and identification of four novel mutations

1 reference

12 December 2020

Four Novel Cystic Fibrosis Mutations in Splice Junction Sequences Affecting the CFTR Nucleotide Binding Folds

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP

1 reference

12 December 2020

Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene

1 reference

12 December 2020

SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.

1 reference

12 December 2020

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

1 reference

12 December 2020

Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families

1 reference

12 December 2020

Identification of the cystic fibrosis gene: genetic analysis

1 reference

12 December 2020

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

1 reference

12 December 2020

Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR

1 reference

12 December 2020

Mutations of the cystic fibrosis gene locus within the population of the Northwest of England

1 reference

12 December 2020

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients

1 reference

12 December 2020

1 reference

12 December 2020

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

12 December 2020

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

12 December 2020

Ethical implications of screening asymptomatic individuals

1 reference

12 December 2020

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

1 reference

12 December 2020

Multi-ion pore behaviour in the CFTR chloride channel

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene.

1 reference

12 December 2020

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

12 December 2020

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations.

1 reference

12 December 2020

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis

1 reference

12 December 2020

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

12 December 2020

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

12 December 2020

How sensitive is PCR-SSCP?

1 reference

12 December 2020

A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00211022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7525450%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference