(Q62583371)

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

scientific article published on 01 January 1992

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13 September 2019

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

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13 September 2019

cystic fibrosis

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13 September 2019

author name string

Kälin N

1

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13 September 2019

Tümmler B

3

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13 September 2019

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1 January 1992

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13 September 2019

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13 September 2019

1

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13 September 2019

3

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13 September 2019

204-210

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13 September 2019

Bacterial periplasmic permeases belong to a family of transport proteins operating from Escherichia coli to human: Traffic ATPases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

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Nucleoside triphosphates are required to open the CFTR chloride channel.

1 reference

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7 January 2021

based on heuristic

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Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

1 reference

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7 January 2021

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Generation of cAMP-Activated Chloride Currents by Expression of CFTR

1 reference

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7 January 2021

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Discrete mutations introduced in the predicted nucleotide-binding sites of the mdr1 gene abolish its ability to confer multidrug resistance

1 reference

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7 January 2021

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The GTPase superfamily: conserved structure and molecular mechanism

1 reference

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7 January 2021

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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

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7 January 2021

based on heuristic

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A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

A tetranucleotide repeat polymorphism in the cystic fibrosis gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation of high-molecular-weight DNA from mammalian cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI 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://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural model of ATP-binding proteins associated with cystic fibrosis, multidrug resistance and bacterial transport

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and genetic analyses at the CF locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural model of the nucleotide-binding conserved component of periplasmic permeases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Effect of Deleting the R Domain on CFTR-Generated Chloride Channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010305

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380010305

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1284535%20AND%20SRC:MED&resulttype=core&format=json

13 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:1284535%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

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